Gene Summary

Name:
adaptor-related protein complex 3, mu 2 subunit
Synonyms:
5830445E16Rik,  AP-3B

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
thick ventricular wall Ap3m2em2(IMPC)H HOM   Early adult 1.83×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Echo

M-Mode Images

24 Images

Human diseases caused by Ap3m2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ap3m2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental And Epileptic Encephalopathy 94
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Tonic seizure, EEG with genera... OMIM:615369
Epilepsy, Myoclonic Juvenile
Status epilepticus, Morning myoclonic jerks, EEG with generalized polyspikes, Bilateral tonic-clo... OMIM:254770
Jeavons Syndrome
EEG with focal spikes, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure with gen... ORPHA:139431
Developmental And Epileptic Encephalopathy 19
EEG with photoparoxysmal response, Status epilepticus, Atonic seizure, Focal hemiclonic seizure, ... OMIM:615744
Continuous Spikes And Waves During Sleep
Typical absence seizure, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal hem... ORPHA:725
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, EEG with spike-wave c... OMIM:607631
Benign Familial Infantile Epilepsy
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... ORPHA:306
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Multifocal epileptiform discharges, Myoclonic absence seizure, Myoclonic seizure, Atypical absenc... OMIM:618596
Developmental And Epileptic Encephalopathy 57
Atypical absence seizure, Generalized myoclonic seizure, Hypsarrhythmia, Seizure OMIM:617771
Perioral Myoclonia With Absences
EEG with spike-wave complexes, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Gen... ORPHA:139426
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... OMIM:616056
Epilepsy, Childhood Absence, Susceptibility To, 1
EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with... OMIM:600131
Febrile Seizures, Familial, 8
EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with... OMIM:607681
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
EEG abnormality, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclonic seizu... OMIM:617831
Developmental And Epileptic Encephalopathy 9
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... OMIM:300088
Myoclonic Epilepsy Of Unverricht And Lundborg
EEG with spike-wave complexes, EEG with polyspike wave complexes, Myoclonus, Bilateral tonic-clon... OMIM:254800
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, EEG with spike-wave comp... OMIM:609446
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, EEG with spike-wave c... OMIM:607682
Juvenile Myoclonic Epilepsy
Status epilepticus, Morning myoclonic jerks, EEG with polyspike wave complexes, Febrile seizure (... ORPHA:307
Developmental And Epileptic Encephalopathy 13
Clonic seizure, Focal hemiclonic seizure, EEG with spike-wave complexes, Tonic seizure, Bilateral... OMIM:614558
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... OMIM:604403
Developmental And Epileptic Encephalopathy 67
EEG abnormality, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Hypsarrh... OMIM:618141
Juvenile Absence Epilepsy
EEG with polyspike wave complexes, Myoclonus, Febrile seizure (within the age range of 3 months t... ORPHA:1941
Dravet Syndrome
Status epilepticus, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, G... OMIM:607208
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Developmental And Epileptic Encephalopathy 33
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Hyps... OMIM:616409
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, EEG abnormality, Generalized myoclonic seizure, General... ORPHA:2382
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:617924
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Eyel... OMIM:618357
Developmental And Epileptic Encephalopathy 56
Status epilepticus, Focal motor seizure, EEG abnormality, EEG with polyspike wave complexes, Myoc... OMIM:617665
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Focal impaired awareness seizure, Febrile seizure (within the age range of 3 mont... OMIM:616172
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-cl... OMIM:613863
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Atypical absence seizure, Focal motor seizure, Bilateral tonic-clo... ORPHA:98818
Intellectual Developmental Disorder With Seizures And Language Delay
EEG with polyspike wave complexes, Increased theta frequency activity in EEG, Myoclonic seizure, ... OMIM:619000
Developmental And Epileptic Encephalopathy 43
Atypical absence seizure, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-cl... OMIM:617113
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, EEG with spike-w... OMIM:618587
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... OMIM:607628
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604233
Developmental And Epileptic Encephalopathy 24
Status epilepticus, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age range of 3... OMIM:615871
Lissencephaly 10
Atypical absence seizure, EEG abnormality, Atonic seizure, Focal impaired awareness seizure, Toni... OMIM:618873
Ceroid Lipofuscinosis, Neuronal, 6A
Abnormal nervous system electrophysiology, Seizure OMIM:601780
Epilepsy, Progressive Myoclonic, 6
Atonic seizure, EEG with spike-wave complexes, Myoclonus, Myoclonic status epilepticus, Bilateral... OMIM:614018
Female Restricted Epilepsy With Intellectual Disability
Status epilepticus, Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Gene... ORPHA:101039
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizu... OMIM:619157
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:613060
Developmental And Epileptic Encephalopathy 18
EEG abnormality, Generalized-onset seizure, Generalized non-motor (absence) seizure, Focal-onset ... OMIM:615476
Pyridoxine-Dependent Epilepsy
Status epilepticus, Atonic seizure, Early onset absence seizures, Focal aware motor seizure, Epil... ORPHA:3006
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizur... ORPHA:79137
Episodic Ataxia, Type 5
Typical absence seizure, Atypical absence seizure, EEG with spike-wave complexes, Myoclonus, EEG ... OMIM:613855
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:618482
Intellectual Developmental Disorder, Autosomal Dominant 5
Bilateral tonic-clonic seizure, EEG abnormality, Myoclonic absence seizure, Seizure OMIM:612621
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Atonic seizure, Focal impaired awareness seizure, EEG with spike-wave complex... ORPHA:36387
Myoclonic Epilepsy Of Infancy
Generalized myoclonic seizure, EEG with irregular generalized spike and wave complexes, Myoclonus... ORPHA:86909
Developmental And Epileptic Encephalopathy 99
Status epilepticus, Focal hemiclonic seizure, Focal impaired awareness seizure, Tonic seizure, Ep... OMIM:619606
Developmental And Epileptic Encephalopathy 6B
Focal hemiclonic seizure, Tonic seizure, EEG with spike-wave complexes (>3.5 Hz), Myoclonus, Myoc... OMIM:619317
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Developmental And Epileptic Encephalopathy 103
Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Continuous spike and ... OMIM:619913
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Developmental And Epileptic Encephalopathy 52
Atypical absence seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Febrile seizur... OMIM:617350
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, EEG with generalized epilepti... ORPHA:35878
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, G... ORPHA:2590
Rolandic Epilepsy
Atypical absence seizure, Focal hemifacial clonic seizure, EEG with irregular generalized spike a... ORPHA:1945
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Dravet Syndrome
Atypical absence seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, Generalized... ORPHA:33069
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bilateral tonic-clonic seizure, EEG abnormality, Myoclonic absence seizure, Generalized myoclonic... OMIM:617836
Glycosylphosphatidylinositol Biosynthesis Defect 15
EEG abnormality, Atonic seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized n... OMIM:617810
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, EEG abnormality, Generalized myoclonic seizure, Bilateral tonic-clonic seizur... OMIM:271980
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absen... OMIM:619616
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Lipoid Proteinosis Of Urbach And Wiethe
Generalized non-motor (absence) seizure, Seizure OMIM:247100
Myoclonic-Astatic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, EEG with focal spike waves... ORPHA:1942
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Atonic seizure, Focal impaired awareness seizure, Generalized tonic seizure, Myoclonus, Infantile... ORPHA:411986
Autosomal Dominant Non-Syndromic Intellectual Disability
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Focal impaired ... ORPHA:178469
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, G... ORPHA:101070
Paroxysmal Exertion-Induced Dyskinesia
Generalized non-motor (absence) seizure, Seizure ORPHA:98811
Bilateral Generalized Polymicrogyria
Status epilepticus, Typical absence seizure, Focal motor seizure, Atonic seizure, Generalized myo... ORPHA:208447
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, Typical absence seizure, Cortical myoclonus, Atonic seizure, E... ORPHA:168491
Clcn4-Related X-Linked Intellectual Disability Syndrome
EEG with focal spikes, Focal impaired awareness seizure, Myoclonus, Infantile spasms, Bilateral t... ORPHA:485350
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Atypical absence seizure, Focal impaired awareness seizure, Continuous spike and waves during slo... OMIM:619428
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:616281
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure OMIM:618242
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence)... OMIM:619854
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Generalized non-motor (absence) seizure, Seizure OMIM:616033
Intellectual Developmental Disorder, Autosomal Recessive 41
Bilateral tonic-clonic seizure, Generalized-onset seizure, Generalized non-motor (absence) seizure OMIM:615637
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Lafora Disease
Status epilepticus, Atypical absence seizure, Erratic myoclonus, Atonic seizure, Focal impaired a... ORPHA:501
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:300558
Lissencephaly Due To Lis1 Mutation
EEG with changes in voltage, Atypical absence seizure, Focal motor seizure, Atonic seizure, Focal... ORPHA:95232
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Atypical absence seizure, Bilateral tonic-clonic seizure with generalized onset, EEG abnormality,... ORPHA:98795
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Bilateral tonic-clonic seizure, Multifocal seizures, Generalized non-motor (absence) seizure, Sei... OMIM:618170
Chromosome Xp11.23-P11.22 Duplication Syndrome
EEG abnormality, Generalized non-motor (absence) seizure OMIM:300801
Childhood Absence Epilepsy
Typical absence seizure, Limb myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz), Febrile seiz... ORPHA:64280
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure OMIM:618729
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:613839
Nicolaides-Baraitser Syndrome
Status epilepticus, Epileptic spasm, Generalized non-motor (absence) seizure, Seizure ORPHA:3051
Intellectual Developmental Disorder, Autosomal Dominant 45
Focal impaired awareness seizure, Myoclonus, Myoclonic seizure, Bilateral tonic-clonic seizure, G... OMIM:617600
Syngap1-Related Developmental And Epileptic Encephalopathy
Eating-induced seizure, Myoclonic absence seizure, Generalized-onset seizure ORPHA:544254
Intellectual Developmental Disorder, Autosomal Dominant 42
Status epilepticus, Focal impaired awareness seizure, Infantile spasms, EEG with burst suppressio... OMIM:616973
Satb2-Associated Syndrome Due To A Pathogenic Variant
Typical absence seizure, Seizure ORPHA:576283
3-Methylglutaconic Aciduria, Type Viia
Atypical absence seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized-onset se... OMIM:619835
Early Infantile Epileptic Encephalopathy
EEG abnormality, Atonic seizure, EEG with spike-wave complexes, Generalized tonic seizure, Myoclo... ORPHA:1934
Myoclonic Epilepsy Of Lafora
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Focal ... OMIM:254780
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
EEG abnormality, EEG with frontal sharp slow waves, Generalized myoclonic seizure, Infantile spas... ORPHA:457351
Kohlschutter-Tonz Syndrome-Like
Status epilepticus, EEG abnormality, EEG with focal spike waves, Generalized tonic seizure, Myocl... OMIM:619229
X-Linked Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure ORPHA:777
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure OMIM:617183
Intellectual Developmental Disorder, Autosomal Dominant 22
Agenesis of corpus callosum, Generalized non-motor (absence) seizure, Seizure OMIM:612337
Intellectual Developmental Disorder, X-Linked 98
Status epilepticus, Atonic seizure, Tonic seizure, Generalized myoclonic seizure, Infantile spasm... OMIM:300912
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Status epilepticus, Generalized non-motor (absence) seizure, Tonic seizure, Seizure OMIM:300260
Kleefstra Syndrome Due To 9Q34 Microdeletion
Status epilepticus, Epileptic spasm, Generalized non-motor (absence) seizure, Seizure, Agenesis o... ORPHA:96147
Intellectual Developmental Disorder, Autosomal Dominant 53
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... OMIM:617798
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:395
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Atonic seizure, Generalized myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, G... ORPHA:79351
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Agenesis of corpus callosum, Generalized non-motor (absence) seizure, Seizure OMIM:617360
Angelman Syndrome
Status epilepticus, Atypical absence seizure, EEG abnormality, Atonic seizure, Generalized myoclo... ORPHA:72
Developmental And Epileptic Encephalopathy 100
EEG with photoparoxysmal response, Typical absence seizure, Tonic seizure, Myoclonus, Infantile s... OMIM:619777
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized myoclonic se... ORPHA:435638
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Agenesis of corpus callosum, Generalized non-motor (absence) seizure OMIM:615802
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure ORPHA:363686
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
EEG with spike-wave complexes, Generalized myoclonic seizure, Generalized tonic seizure, Bilatera... ORPHA:369837
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Atonic seizure, EEG abnormality, Generalized myoclonic seizure, Myoclonus, Infantile spasms, Gene... ORPHA:404454
Weaver Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:277590
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Focal-onset seizure, Generalized non-motor (absence) seizure, Seizure ORPHA:258
Kinsship Syndrome
Myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal-onset s... OMIM:619297
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:466943
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure ORPHA:293978
Tay-Sachs Disease
Typical absence seizure, Myoclonus, Focal impaired awareness seizure, Seizure ORPHA:845
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure ORPHA:466950
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:513456
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Typical absence seizure, Agenesis of corpus callosum, Seizure ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Typical absence seizure, Agenesis of corpus callosum, Seizure ORPHA:352665
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Typical absence seizure, Atonic seizure, Generalized myoclonic seizure, Febrile seizure (within t... ORPHA:268261
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Status epilepticus, Epileptic spasm, Generalized non-motor (absence) seizure, Seizure ORPHA:2636
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lateral ventricle dilatation, Dysplastic corpus callosum, Generalized-onset seizure, Generalized ... ORPHA:500150
Chronic Visceral Acid Sphingomyelinase Deficiency
Generalized non-motor (absence) seizure ORPHA:77293
Sotos Syndrome
Focal impaired awareness seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, ... ORPHA:821
Carpenter Syndrome 2
Generalized non-motor (absence) seizure OMIM:614976
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Atypical absence seizure, EEG abnormality, Lateral ventricle dilatation, Seizure, Focal-onset sei... ORPHA:261537
Mowat-Wilson Syndrome
Status epilepticus, Atypical absence seizure, EEG with spike-wave complexes, Focal-onset seizure,... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Atypical absence seizure, EEG abnormality, Lateral ventricle dilatation, Seizure, Focal-onset sei... ORPHA:261552
Alström Syndrome
Typical absence seizure ORPHA:64

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 Ap3m2

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 Ap3m2.

No publications found that use IMPC mice or data for Ap3m2.

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MGI Allele Allele Type Produced
Ap3m2em2(IMPC)H Indel Mice

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