Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
sphingosine-1-phosphate receptor 2
Synonyms:
H218,  S1P2,  1100001A16Rik,  Edg5,  Gpcr13,  LPb2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by S1pr2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to S1pr2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419

The table below shows human diseases predicted to be associated to S1pr2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Deafness, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Otosclerosis 7
Progressive hearing impairment, Conductive hearing impairment, Otosclerosis, Abnormality of the a... OMIM:611572
Cochleosaccular Degeneration-Cataract Syndrome
Seizure, Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... OMIM:601068
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... OMIM:601369
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Myoclonus, Enhancement of the C-... OMIM:615127
Epilepsy, Familial Temporal Lobe, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-induced seizure, Focal... OMIM:614417
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Photosensitive myoclonic seizure, Focal motor seizure, Ataxia, Progressive... OMIM:172500
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure OMIM:611364
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... OMIM:613608
Epilepsy, Familial Temporal Lobe, 1
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... OMIM:600512
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Continuous Spikes And Waves During Sleep
Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Focal clonic s... ORPHA:725
Developmental And Epileptic Encephalopathy 94
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... OMIM:615369
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Benign Familial Infantile Epilepsy
Generalized clonic seizure, Normal interictal EEG, Limb myoclonus, Bilateral tonic-clonic seizure... ORPHA:306
Deafness, X-Linked 2
Conductive hearing impairment, Dilatated internal auditory canal, Congenital sensorineural hearin... OMIM:304400
Autosomal Dominant Epilepsy With Auditory Features
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Nocturnal seizures, Inter... ORPHA:101046
Cerebellar Atrophy, Developmental Delay, And Seizures
Seizure, Bilateral tonic-clonic seizure with focal onset, EEG abnormality OMIM:617643
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Seizures, Benign Familial Neonatal, Autosomal Recessive
Normal interictal EEG, Bilateral tonic-clonic seizure OMIM:269720
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, EEG with centrotemporal focal s... OMIM:245570
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Increased proportion of memory T cells, Lymphadenopathy, Recurrent otitis... OMIM:618982
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypsarrhythmi... OMIM:616056
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, N... ORPHA:98820
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Cortical Malformations, Occipital
EEG abnormality, Bilateral tonic-clonic seizure OMIM:614115
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-moto... OMIM:254770
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Conductive hearing impairment, Abnormality of the pinna, Bilateral conductive hearing impairment,... OMIM:128980
Rolandic Epilepsy-Speech Dyspraxia Syndrome
EEG with generalized epileptiform discharges, Seizure, Bilateral tonic-clonic seizure with focal ... ORPHA:163721
Pyridoxine-Dependent Epilepsy
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Hypsarrhythmia, EEG... ORPHA:3006
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, EEG abnormality, Bilateral tonic-clonic seizure OMIM:610003
Otosclerosis 10
Otosclerosis OMIM:615589
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Myoclonus, Bilateral tonic-clonic seizure, Splenomegaly ORPHA:139406
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Myoclonus, EEG with focal sharp slow waves, EEG abnormality, Aton... ORPHA:2382
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Seizure, EEG... OMIM:617831
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure OMIM:616341
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Enlarged cochlear aqueduct, Stapes ankylosis, Progressive sensorin... ORPHA:90646
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Interictal epileptiform ... OMIM:254800
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Jeavons Syndrome
EEG with hyperventilation-induced epileptiform discharges, Febrile seizure (within the age range ... ORPHA:139431
Centralopathic Epilepsy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with centrotemporal foc... OMIM:117100
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, EEG with spike-wave complexes, Chin myoclonus, Generalized myoclo... ORPHA:139426
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Deafness-Ear Malformation-Facial Palsy Syndrome
Conductive hearing impairment, Facial palsy, Hypoplasia of the antihelix, Aplasia/Hypoplasia of t... ORPHA:3232
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, Facial palsy, Facial paralysis, External ear malformation, Abnorma... OMIM:124490
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Hearing impairment OMIM:166220
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... OMIM:600669
Intellectual Developmental Disorder With Seizures And Language Delay
Increased theta frequency activity in EEG, Bilateral tonic-clonic seizure, EEG with spike-wave co... OMIM:619000
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Abnormal head movements, Vertigo ORPHA:71518
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired ... OMIM:618587
Pendred Syndrome
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear malformation OMIM:274600
Landau-Kleffner Syndrome
EEG with temporal focal spikes, Non-convulsive status epilepticus without coma, Bilateral tonic-c... ORPHA:98818
Unilateral Hemispheric Polymicrogyria
Focal atonic seizure, EEG with focal epileptiform discharges, Infantile spasms, Bilateral tonic-c... ORPHA:101071
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Osteogenesis Imperfecta, Type I
Otosclerosis, Hearing impairment OMIM:166200
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear aplasia OMIM:619553
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Mohr-Tranebjaerg Syndrome
Dystonia, Optic atrophy, Abnormality of somatosensory evoked potentials, Caudate atrophy, Global ... ORPHA:52368
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) seizure, Bilateral tonic... OMIM:609446
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... OMIM:607681
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... OMIM:607631
Epilepsy, Familial Adult Myoclonic, 5
Seizure, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Focal sensor... OMIM:615400
New-Onset Refractory Status Epilepticus
EEG with temporal epileptiform discharges, Seizure precipitated by febrile infection, Bilateral t... ORPHA:363558
Juvenile Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:1941
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Cochlear degeneration, Optic atrophy, Spinocerebellar atrophy, Hearing impairment, Impaired vibra... ORPHA:95433
Lissencephaly 10
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... OMIM:618873
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Dravet Syndrome
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... OMIM:607208
Seizures, Benign Familial Infantile, 1
Normal interictal EEG, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with foca... OMIM:601764
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
EEG with polyspike wave complexes, Generalized non-motor (absence) seizure, Morning myoclonic jer... OMIM:607682
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Progressive sensorineural hea... OMIM:303110
Usher Syndrome Type 1
Subcortical cerebral atrophy, Sensorineural hearing impairment, Ataxia, Vestibular hypofunction, ... ORPHA:231169
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:22
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Interictal epileptiform activity, Myoclonic seizure, Seizure, Foc... OMIM:619157
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Myoclonus, Anemia, Splenomegaly, Seizure, Clonic seizure, Hypersplenism, Bilateral ... OMIM:610539
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Choreoathetosis, Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairm... OMIM:617519
Fragile X Syndrome
Seizure, Hyperactivity, Abnormal head movements, Macrotia OMIM:300624
Salt And Pepper Developmental Regression Syndrome
Multifocal epileptiform discharges, Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure OMIM:609056
Branchiootic Syndrome 1
Cochlear malformation, Dilatated internal auditory canal, Hypoplasia of the cochlea, Low-set ears... OMIM:602588
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal,... OMIM:619274
Usher Syndrome Type 3
Sensorineural hearing impairment, Ataxia, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231183
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clo... OMIM:607745
Episodic Ataxia, Type 9
Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepticus OMIM:618924
Myoclonic Epilepsy Of Infancy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... ORPHA:86909
Isolated Focal Cortical Dysplasia
Neuronal/glioneuronal neoplasm of the central nervous system, Infantile spasms, Nocturnal seizure... ORPHA:65683
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... ORPHA:36387
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) seizure, Bilateral tonic... ORPHA:79137
Developmental And Epileptic Encephalopathy 6B
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic... OMIM:619317
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure, Status epilepticus, Atonic seizure, Focal-onset seizure, Generali... OMIM:300088
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal-o... OMIM:619301
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure... OMIM:618856
Unilateral Focal Polymicrogyria
EEG with temporal focal spikes, Abnormality of somatosensory evoked potentials, EEG with occipita... ORPHA:268947
17Q24.2 Microdeletion Syndrome
Otosclerosis, Recurrent otitis media, Seizure, Progressive conductive hearing impairment, Microtia ORPHA:529962
Progressive Myoclonic Epilepsy Type 3
Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), ... ORPHA:263516
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Anemia,... OMIM:619302
Non-Syndromic Genetic Deafness
Conductive hearing impairment, Moderate hearing impairment, High-frequency hearing impairment, Ch... ORPHA:87884
Epilepsy, Pyridoxine-Dependent
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:266100
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, EEG abnormality, Bilateral tonic-clonic seizure, Myoclonic absence... OMIM:617836
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... OMIM:604403
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure OMIM:613721
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Heari... OMIM:601455
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Episodic Ataxia Type 4
Ataxia, Abnormal head movements, Vertigo ORPHA:79136
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Progressive sensori... OMIM:125250
Rasmussen Subacute Encephalitis
Increased theta frequency activity in EEG, EEG with focal epileptiform discharges, Interictal epi... ORPHA:1929
Epilepsy, Familial Adult Myoclonic, 2
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, EEG with photoparoxysmal respons... OMIM:607876
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Eyelid myoclonus, Generalized non-motor (abse... OMIM:618357
Epilepsy, Familial Temporal Lobe, 3
Deja vu aura, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure OMIM:611630
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Axonal degeneration... OMIM:601596
Epilepsy, Progressive Myoclonic, 8
Myoclonus, Bilateral tonic-clonic seizure OMIM:616230
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Generalized myoclonic seizure, Myoclonic status epilepticus, Myoclonic seizure, Bilateral tonic-c... OMIM:611726
Female Restricted Epilepsy With Intellectual Disability
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... ORPHA:101039
Mucopolysaccharidosis Type 2
Conductive hearing impairment, Optic atrophy, Otosclerosis, Decreased nerve conduction velocity, ... ORPHA:580
Meniere Disease
Tinnitus, Vertigo, Hearing impairment OMIM:156000
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Dystonia, Jerky head movements, Spastic gait, Spastic ataxia, Impaired v... ORPHA:251282
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Myoclonic seizure, Atonic seizure, EEG abnormality, Generalized n... OMIM:617810
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Seizure, Status epilepticus, EEG abnormality, Generalized myoclon... OMIM:271980
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media OMIM:616941
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Bilateral tonic-clonic seizure, Chorea, Abnormal head movements, Focal impai... ORPHA:382
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Seizure, Bilateral tonic-clonic seizure OMIM:601217
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure OMIM:617080
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Pendred Syndrome
Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Vertigo, Sensorineural hearing impairmen... ORPHA:705
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... ORPHA:289266
Familial Infantile Myoclonic Epilepsy
Simple febrile seizure, EEG with focal spike waves, Limb myoclonus, Bilateral tonic-clonic seizur... ORPHA:352582
Deafness, Autosomal Dominant 41
Tinnitus, Progressive sensorineural hearing impairment, Hearing impairment OMIM:608224
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... OMIM:616685
Developmental And Epileptic Encephalopathy 4
Bilateral tonic-clonic seizure, Hypsarrhythmia, EEG with burst suppression, Status epilepticus, G... OMIM:612164
Primary Dystonia, Dyt13 Type
Dystonia, Jerky head movements, Torticollis, Focal dystonia, Craniofacial dystonia, Generalized d... ORPHA:98807
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... OMIM:604352
Xq21 Microdeletion Syndrome
Conductive hearing impairment, Optic atrophy, Dilatated internal auditory canal, Stapes ankylosis... ORPHA:1435
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Decreased spec... ORPHA:70593
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:616172
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with series of focal spikes, Typical absence seizure, Bilateral tonic-clonic seizure, Focal t... ORPHA:168491
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:613863
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Abnormal peripheral action potential amplitude, EEG abnormal... ORPHA:457205
Mucopolysaccharidosis Type 2, Severe Form
Conductive hearing impairment, Optic atrophy, Otosclerosis, Seizure, Sensorineural hearing impair... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Conductive hearing impairment, Optic atrophy, Otosclerosis, Seizure, Sensorineural hearing impair... ORPHA:217093
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:309530
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:208441
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Seizure precipitated by febrile infection, B... ORPHA:363549
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of CD4-positive helper T cells, Decreased proportion... OMIM:618204
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, EEG with focal spikes, Bilateral tonic-clonic seizure ORPHA:488635
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure, Status epilepticus, Fo... ORPHA:330050
Developmental And Epileptic Encephalopathy 34
Focal hemiclonic seizure, Seizure, Status epilepticus, Bilateral tonic-clonic seizure with focal ... OMIM:616645
Developmental And Epileptic Encephalopathy 90
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypsarrhythmia, EEG with burst ... OMIM:301058
Huntington Disease-Like 1
Gait disturbance, Cerebellar atrophy, Jerky head movements, Dysmetria, Chorea, Abnormal head move... ORPHA:157941
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure OMIM:619639
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Autosomal Dominant Non-Syndromic Intellectual Disability
Typical absence seizure, Bilateral tonic-clonic seizure, Focal emotional seizure with laughing, F... ORPHA:178469
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Lymphoproliferative disorder, Lymphoma, Splenom... OMIM:614470
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fe... OMIM:608096
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:604233
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Tonic seizure, EEG with occipital epileptiform discharges, Bilateral tonic-clonic seizure, Infant... OMIM:619428
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, EEG abnormality, Focal-onset seizure OMIM:618760
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Dk1-Cdg
Bilateral tonic-clonic seizure, Infantile spasms, Hypsarrhythmia, EEG with generalized slow activ... ORPHA:91131
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:605021
Rare Non-Syndromic Intellectual Disability
Seizure, Bilateral tonic-clonic seizure ORPHA:101685
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Recurrent... OMIM:618944
Systemic Primary Carnitine Deficiency
Hepatomegaly, Bilateral tonic-clonic seizure with focal onset ORPHA:158
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), EEG with centrotemporal focal spik... ORPHA:1945
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Lack of T cell function, Recurrent otitis media, Increased cir... ORPHA:277
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure OMIM:616281
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Abnormal head movements OMIM:616939
Bilateral Generalized Polymicrogyria
Typical absence seizure, Infantile spasms, Bilateral tonic-clonic seizure, Focal emotional seizur... ORPHA:208447
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal tonic seizure, Myoclonus, Focal impaired ... ORPHA:485350
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Bilateral tonic-clonic seizure OMIM:608278
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Conductive hearing impairment, Congenital stapes ankylosis OMIM:184460
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Long-segment aganglionic megacolon, Absent brainstem auditory responses, Decreased nerve conducti... OMIM:609136
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis, Hearing impairment ORPHA:79087
Late-Infantile/Juvenile Krabbe Disease
Gait disturbance, Acroparesthesia, Febrile seizure (within the age range of 3 months to 6 years),... ORPHA:206443
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Increased ci... OMIM:618534
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Focal-onset seizure... OMIM:619616
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Panhypogammaglobulinemia, Otitis media, T lymphocytopenia OMIM:601457
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment OMIM:185800
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Seizure, Status epilepticus, EEG abnormality, Bilateral tonic-clonic seizure ORPHA:529665
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Neutropenia, Bilateral tonic-clonic seizure, Splenomegaly, EEG abnormality, Focal m... OMIM:617050
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... OMIM:615513
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hea... ORPHA:1215
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... OMIM:607628
Huntington Disease-Like 3
Dystonia, Caudate atrophy, Chorea, Abnormal head movements, Progressive gait ataxia, Seizure, Bro... ORPHA:157946
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
Ogden Syndrome
Torticollis, Abnormal head movements, Macrotia, Shuffling gait, Cerebral atrophy, Low-set ears, L... ORPHA:276432
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... ORPHA:443167
Epilepsy, Familial Temporal Lobe, 6
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:615697
X-Linked Lymphoproliferative Disease
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... ORPHA:2442
Charcot-Marie-Tooth Disease Type 1F
Impaired proprioception, Paresthesia, Impaired pain sensation, Steppage gait, Cervical spinal cor... ORPHA:101085
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Bilateral tonic-clonic seizure OMIM:619191
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Myoclonus, EEG abnormality, Bilateral tonic-clonic seizure ORPHA:313772
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Seizure, Bilateral tonic-... ORPHA:98795
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Focal impaired awar... ORPHA:488613
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Severe Canavan Disease
Seizure, Bilateral tonic-clonic seizure ORPHA:314911
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Beckwith-Wiedemann Syndrome
Abnormal earlobe morphology, Otosclerosis, Posterior helix pit, Anterior creases of earlobe, Wide... ORPHA:116
Bor Syndrome
Enlarged cochlear aqueduct, Hypoplasia of the cochlea, Facial palsy, Hearing impairment, Abnormal... ORPHA:107
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Bilateral tonic-clonic seizure OMIM:619065
Behavioral Variant Of Frontotemporal Dementia
EEG with continuous slow activity, Bilateral tonic-clonic seizure ORPHA:275864
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... OMIM:201050
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Foxg1 Syndrome
Infantile spasms, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus, Focal-onset seizure ORPHA:561854
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Adult-Onset Autosomal Dominant Leukodystrophy
Impaired proprioception, Gait disturbance, Abnormal auditory evoked potentials, Abnormality of so... ORPHA:99027
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Infantile spasms, EEG wit... ORPHA:544503
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure OMIM:609800
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Seizure, Diffuse cere... ORPHA:3240
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Increased theta frequency activity in EEG, Bilateral tonic-clonic seizure, Nocturnal seizures, In... ORPHA:98784
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... OMIM:618986
Brain Small Vessel Disease 2
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:614483
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Com... OMIM:619338
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Hepatomegaly, Bilateral tonic-clonic seizure ORPHA:369840
Pyruvate Dehydrogenase E1-Alpha Deficiency
Bilateral tonic-clonic seizure, Infantile spasms, Hypsarrhythmia, Seizure, EEG with focal spikes,... ORPHA:79243
Pelger-Huet Anomaly
Neutropenia, Bilateral tonic-clonic seizure, Hyposegmentation of neutrophil nuclei, Seizure, Gian... OMIM:169400
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... OMIM:618917
Waardenburg Syndrome, Type 2E
Morphological abnormality of the vestibule of the inner ear, Dilated vestibule of the inner ear, ... OMIM:611584
Alpers-Huttenlocher Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure ORPHA:726
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Bilateral tonic-clonic seizure, T lymphocytopenia, Anemia, Abnormal lymphocyte coun... ORPHA:79124
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Seizure, Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:79264
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating... ORPHA:100024
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Lafora Disease
Bilateral tonic-clonic seizure, Giant somatosensory evoked potentials, Myoclonus, Focal impaired ... ORPHA:501
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Focal impaired awar... ORPHA:1947
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Infantile spasms, Bilateral tonic-clonic seizure ORPHA:250972
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clon... ORPHA:42
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
EEG with frontal sharp slow waves, Bilateral tonic-clonic seizure, Infantile spasms, Hypsarrhythm... ORPHA:457351
Progressive Supranuclear Palsy-Corticobasal Syndrome
Jerky head movements, Limb myoclonus, Focal dystonia, Bradykinesia, Somatic sensory dysfunction ORPHA:240103
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Diffuse cerebellar atrophy, Abnormal head movements, Progressive gait ataxia, Progressive cerebel... ORPHA:247815
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Seizure, Bilateral tonic-clonic seizure OMIM:300423
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Reduced natural killer cell activity, Decreased circu... OMIM:308240
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Overfolded helix, Abnormality of the pinna, Underdeveloped tragus,... ORPHA:50815
Adult Krabbe Disease
Gait disturbance, Acroparesthesia, Ataxia, Impaired tactile sensation, EEG abnormality, Broad-bas... ORPHA:206448
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Myoclonic status epilepticus, Limb myoclonus, Typical absence seizure, Myoclonus, Seizure, Eyelid... ORPHA:2590
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Seizure, Focal myoclonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:464282
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Typical absence se... ORPHA:64280
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis, Decreased ci... ORPHA:331206
Intellectual Developmental Disorder, X-Linked 30
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300558
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Cerebellar atrophy, Sensorineural hearing... OMIM:619260
Immunodeficiency 13
B lymphocytopenia, Recurrent otitis media, Decreased proportion of CD4-positive helper T cells, L... OMIM:615518
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Ataxia, Jerky head movements, Choreoathetosis OMIM:245348
Mogs-Cdg
Optic atrophy, Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, De... ORPHA:79330
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Increased circulating IgA level, Lymphadenopathy, Decreased lymphocyte proliferation... ORPHA:169154
Myoclonic-Astatic Epilepsy
Simple febrile seizure, EEG with focal spike waves, Interictal epileptiform activity, EEG with ge... ORPHA:1942
Developmental And Epileptic Encephalopathy 79
Tonic seizure, Myoclonic seizure, Migrating focal seizure, Seizure, Status epilepticus, Bilateral... OMIM:618559
Acute Monoblastic/Monocytic Leukemia
Progressive hearing impairment, Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute mo... ORPHA:514
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials, Prolonge... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials, Prolonge... ORPHA:529799
Gorham-Stout Disease
Lymphangioma, Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Spinocerebellar Ataxia 48
Bilateral tonic-clonic seizure OMIM:618093
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Interictal epileptiform activity, EEG with generalized epileptiform discharges, EEG... ORPHA:163681
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure OMIM:540000
Congenital Insensitivity To Pain With Severe Intellectual Disability
Multifocal epileptiform discharges, Bilateral tonic-clonic seizure ORPHA:453510
Early Infantile Epileptic Encephalopathy
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... ORPHA:1934
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:614487
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... ORPHA:35078
Infantile Krabbe Disease
Optic atrophy, Myoclonus, Hyperesthesia, Decreased nerve conduction velocity, Hearing impairment,... ORPHA:206436
Multiple Synostoses Syndrome 1
Stapes ankylosis, Waddling gait, Progressive conductive hearing impairment OMIM:186500
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Ring Chromosome 21 Syndrome
Seizure, Bilateral tonic-clonic seizure with generalized onset, EEG abnormality, Simple febrile s... ORPHA:1445
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Neutropenia, Bilateral tonic-clonic seizure OMIM:608809
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Jerky head movements, Bilateral tonic-clonic seizure, Global brain atrophy, E... ORPHA:369837
Apert Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Morphological abnormality of the... ORPHA:87
Cockayne Syndrome Type 1
Gait disturbance, Optic atrophy, Absent brainstem auditory responses, Macrotia, Hearing impairmen... ORPHA:90321
Arthrogryposis, Distal, Type 2A
Seizure, Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Bilateral tonic-clonic seizure, Multifocal seizures, EEG with burst suppression, Se... OMIM:618143
Angelman Syndrome
Infantile spasms, Bilateral tonic-clonic seizure, Myoclonus, Seizure, Status epilepticus, EEG abn... ORPHA:72
Amish Lethal Microcephaly
Hepatomegaly, Bilateral tonic-clonic seizure ORPHA:99742
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Bilateral tonic-clonic seizure ORPHA:457240
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ... OMIM:616084
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Low-set ears, Seizure OMIM:614701
X-Linked Intellectual Disability, Hedera Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:93952
Japanese Encephalitis
Decreased motor nerve conduction velocity, Bilateral tonic-clonic seizure, Interictal epileptifor... ORPHA:79139
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... ORPHA:86843
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... OMIM:619510
Intellectual Developmental Disorder, X-Linked 98
Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Hypsarrhythmia, Status epileptic... OMIM:300912
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Seizure, Myoclonic seizure, Bilateral tonic-clonic seizure with generalized onset, Hypsarrhythmia OMIM:619076
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Bilateral tonic-clonic seizure OMIM:619278
X-Linked Non-Syndromic Intellectual Disability
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:777
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hepatocellular necrosis, Bilateral tonic-clonic seizure, Hepatic steatosis, Peripor... OMIM:201475
D-Bifunctional Protein Deficiency
Hepatomegaly, Bilateral tonic-clonic seizure, Bile duct proliferation, Decreased nerve conduction... OMIM:261515
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Bilateral tonic-clonic seizure ORPHA:199354
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure, Focal emotional seizure with laughing, Megaloblastic anemia, Epil... ORPHA:79351
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:268800
Trisomy 10P
Abnormal auditory evoked potentials, Low voltage EEG, Focal clonic seizure, Macrotia, Posteriorly... ORPHA:171929
Distal Monosomy 10Q
Cochlear malformation, Protruding ear, Morphological abnormality of the vestibule of the inner ea... ORPHA:96148
Infantile Cerebellar-Retinal Degeneration
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:614559
X-Linked Intellectual Disability Due To Gria3 Mutations
Seizure, Status epilepticus, Myoclonus, Bilateral tonic-clonic seizure ORPHA:364028
Schinzel-Giedion Syndrome
Large earlobe, Infantile sensorineural hearing impairment, Aganglionic megacolon, Cerebral cortic... ORPHA:798
Hyperphosphatasia-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Seizure, EEG with polyspike wave complexes, EEG with s... ORPHA:247262
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphoproliferative disorder, Lymphadenopathy, Lymphadenitis, Absence of CD8-positive T cells, Ab... ORPHA:911
Melas
Bilateral tonic-clonic seizure, Myoclonus, Anemia, Recurrent pancreatitis, Seizure, EEG abnormali... ORPHA:550
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal impaired awareness seizure, Multifocal se... ORPHA:480864
Epilepsy, Early-Onset, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal impaired awareness seizur... OMIM:619580
Neuromuscular Oculoauditory Syndrome
Infantile spasms, Decreased nerve conduction velocity, Bilateral tonic-clonic seizure, Decreased ... OMIM:618733
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Seizure, Focal myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ORPHA:369929
Cockayne Syndrome A
Optic atrophy, Hepatomegaly, Abnormal auditory evoked potentials, Thymic hormone decreased, Pigme... OMIM:216400
Cerebrotendinous Xanthomatosis
Dystonia, Gait disturbance, Abnormal auditory evoked potentials, Optic disc pallor, Cerebellar at... ORPHA:909
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Myoclonus, Bilateral tonic-clonic seizure with focal onset, Focal... OMIM:254780
Lujo Hemorrhagic Fever
Leukocytosis, Leukopenia, Bilateral tonic-clonic seizure, Fulminant hepatitis, Seizure, Lymphopen... ORPHA:319213
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
Bilateral Polymicrogyria
Infantile spasms, Bilateral tonic-clonic seizure, Seizure, Generalized-onset seizure, Focal-onset... ORPHA:268940
3P25.3 Microdeletion Syndrome
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic se... ORPHA:435638
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Seizure, Focal myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:481152
Mend Syndrome
Abnormal auditory evoked potentials, Seizure, Hyperactivity, Wide anterior fontanel, Low-set ears ORPHA:401973
Molybdenum Cofactor Deficiency, Complementation Group C
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615501
Mosaic Variegated Aneuploidy Syndrome 1
Rhabdomyosarcoma, Bilateral tonic-clonic seizure, Leukemia, Generalized myoclonic seizure, Nephro... OMIM:257300
Cockayne Syndrome B
Optic atrophy, Hepatomegaly, Abnormal auditory evoked potentials, Pigmentary retinopathy, Abnorma... OMIM:133540
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Seizure, Generalized tonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure OMIM:617193
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Prolonged neonatal jaundice, Bilateral tonic-clonic seizure ORPHA:423479
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Seizure, Focal-onset seizure, Generalized myoclonic seizure, Gene... ORPHA:395
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Focal tonic seizure, Myoclonus, Seizure, Bilateral tonic-clonic seizure with generalized onset, E... ORPHA:314655
Nivelon-Nivelon-Mabille Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:600092
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Noonan Syndrome
Sensorineural hearing impairment, Thickened helices, Aplasia of the semicircular canal, Low-set, ... ORPHA:648
Ritscher-Schinzel Syndrome 4
Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:619435
Biotinidase Deficiency
Infantile spasms, Bilateral tonic-clonic seizure, Focal motor seizure, Seizure, Generalized myocl... ORPHA:79241
Leigh Syndrome With Nephrotic Syndrome
Bilateral tonic-clonic seizure with focal onset, EEG with focal spikes ORPHA:255249
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Sandifer Syndrome
Abnormal head movements, Anemia ORPHA:71272
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Increased theta frequency activity in EEG, Febrile seizure (within the age range of 3 months to 6... ORPHA:459070
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Bilater... ORPHA:496641
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Infantile spasms, Myoclonic spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure ORPHA:447997
Fatty Acid Hydroxylase-Associated Neurodegeneration
Bilateral tonic-clonic seizure, Focal-onset seizure ORPHA:329308
Combined Oxidative Phosphorylation Defect Type 29
Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:478029
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Infantile spasms, Bilateral tonic-clonic seizure, Seizure, Generalized myoclonic se... ORPHA:255210
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:3044
Gaucher Disease
Hepatomegaly, Bilateral tonic-clonic seizure, Hepatitis, Anemia, Splenomegaly, Cirrhosis, Pancyto... ORPHA:355
Rhizomelic Chondrodysplasia Punctata, Type 5
Seizure, Convulsive status epilepticus OMIM:616716
Charge Syndrome
Optic atrophy, Abnormal cranial nerve morphology, Overfolded helix, Low-set, posteriorly rotated ... ORPHA:138
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:615802
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Bilateral tonic-clonic seizure, Infantile spasms, Multifocal seizures, Hypsarrhythmia, Seizure, E... OMIM:301044
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Bilateral tonic-clonic seizure OMIM:615474
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Bilateral tonic-clonic seizure, Splenomegaly OMIM:252010
Alternating Hemiplegia Of Childhood
Seizure, Status epilepticus, Focal motor seizure, Bilateral tonic-clonic seizure ORPHA:2131
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Isolated Permanent Neonatal Diabetes Mellitus
Generalized myoclonic seizure, Pancreatic hypoplasia, Bilateral tonic-clonic seizure, Reduced pan... ORPHA:99885
Cocaine Intoxication
Bilateral tonic-clonic seizure, Seizure, Atypical absence status epilepticus, Status epilepticus,... ORPHA:90068
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... ORPHA:466943
Norrie Disease
Optic atrophy, Protruding ear, Macrotia, Sensorineural hearing impairment, Seizure, EEG abnormali... ORPHA:649
Doors Syndrome
Thrombocytosis, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Capi... ORPHA:79500
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Kinsship Syndrome
Myoclonus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Focal-onset s... OMIM:619297
Tubular Renal Disease-Cardiomyopathy Syndrome
Hepatic calcification, Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:73224
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Bilateral tonic-clonic seizure, Myoclonic seizure, Tonic seizure OMIM:619512
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure ORPHA:466950
Choreoacanthocytosis
Hepatomegaly, Bilateral tonic-clonic seizure, Acanthocytosis, Decreased amplitude of sensory acti... ORPHA:2388
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Nk-Cell Enteropathy
Increased T cell count, Intestinal polyp, Lymphoproliferative disorder ORPHA:263665
Hallermann-Streiff Syndrome
Bilateral tonic-clonic seizure OMIM:234100
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Bilateral... ORPHA:268261
Generalized Arterial Calcification Of Infancy
Conductive hearing impairment, Calcification of the auricular cartilage, Hearing impairment, Stap... ORPHA:51608
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response ORPHA:309246
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:488627
Sotos Syndrome
Acute lymphoblastic leukemia, Neuroblastoma, Astrocytoma, Bilateral tonic-clonic seizure, Cholest... ORPHA:821
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... ORPHA:513456
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response OMIM:608643
Charge Syndrome
Facial palsy, Sensorineural hearing impairment, Mixed hearing impairment, Microtia, Low-set ears,... OMIM:214800
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Bilateral tonic-clonic seizure ORPHA:457359
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure, Hamartoma of tongue ORPHA:2751
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response ORPHA:438216
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Myoclonus, Anemia, Bilateral tonic-clonic seizure on awakening, Seizure, Generalized tonic seizur... ORPHA:438213
Tay-Sachs Disease
Tremor, Exaggerated startle response ORPHA:845
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response ORPHA:521426
Sarcoidosis
Portal hypertension, Hepatomegaly, Leukopenia, Increased T cell count, Lymphadenopathy, Hyperpigm... ORPHA:797
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Chordee, Exaggerated startle response OMIM:619522

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for S1pr2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to S1pr2.

No publications found that use IMPC mice or data for S1pr2.

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MGI Allele Allele Type Produced
S1pr2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
S1pr2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
S1pr2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
S1pr2tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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