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Gene: Isl1 MGI:101791

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ISL1 transcription factor, LIM/homeodomain
Synonyms:
Islet 1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Isl1 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 Isl1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bladder Exstrophy
Intestinal malrotation, Umbilical hernia, Abnormality of the anus ORPHA:93930

The table below shows human diseases predicted to be associated to Isl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... OMIM:128980
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st... OMIM:124490
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... ORPHA:3232
Conductive Deafness-Malformed External Ear Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:3216
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment, Carpal synostosis, Proximal symphalangism of han... OMIM:185800
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... ORPHA:90646
Renal, Genital, And Middle Ear Anomalies
Abnormality of the middle ear ossicles, Hearing impairment OMIM:267400
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Atresia of the external auditory canal, Conductive hearing impairment, Chronic otitis media OMIM:221320
Lambert Syndrome
Intrahepatic biliary atresia, Cholestasis, Ventricular septal defect, Branchial anomaly, Jaundice ORPHA:1296
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Microtia, Overfolded... ORPHA:79113
Branchiootic Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Atresia of the ext... ORPHA:52429
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment, Fused cervical vert... OMIM:184460
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Atresia of the external auditory canal, Hearing impairment ORPHA:3023
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Carpal synostosis, Bilateral conductive hearing impairment, Abnormality of the ankles, Atresia of... ORPHA:2010
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma OMIM:614113
Aural Atresia, Congenital
Atresia of the external auditory canal, Conductive hearing impairment OMIM:607842
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis OMIM:601820
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Branchiogenic Deafness Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:50815
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... ORPHA:87884
Coxoauricular Syndrome
Reduced bone mineral density, Microtia, Atresia of the external auditory canal, Hip dislocation, ... ORPHA:1508
Branchiogenic-Deafness Syndrome
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Mixed hearing impairmen... OMIM:609166
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:614373
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Microtia With Meatal Atresia And Conductive Deafness
Conductive hearing impairment, Anotia, Aplasia/Hypoplasia of the middle ear, Microtia OMIM:251800
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Congenital sensorineural hearing impairment, Carpal synostosis, Jo... OMIM:157800
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the ... ORPHA:3236
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology OMIM:607641
Bor Syndrome
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex... ORPHA:107
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... OMIM:617519
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Atresia of the external auditory canal, Conductive hearing impairment, Congenital hip dislocation OMIM:133705
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Atresia of the external auditory canal OMIM:209770
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... ORPHA:139507
Otofaciocervical Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Protruding ear, Atresia of the exte... ORPHA:2792
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Hemifacial Microsomia With Radial Defects
Atresia of the external auditory canal, Conductive hearing impairment, Microtia OMIM:141400
Hypertelorism-Microtia-Facial Clefting Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Microtia ORPHA:2213
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Abnormal autonomic nervous system physiology, Atresia of the external auditory canal, Arthrogrypo... OMIM:243180
X-Linked Mandibulofacial Dysostosis
High palate, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Branchial anomaly,... ORPHA:1131
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Oculoauriculovertebral Spectrum With Radial Defects
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... ORPHA:2549
Smith-Magenis Syndrome
Abnormality of the outer ear, Hearing impairment, EEG abnormality, Morphological abnormality of t... OMIM:182290
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Anal atresia, Atrial septal def... ORPHA:210122
Microtia
Abnormal pinna morphology, Microtia, Anotia, Atresia of the external auditory canal, Hypoplastic ... ORPHA:83463
Branchiooculofacial Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Microtia, Overfolded helix, Hypo... OMIM:113620
Braddock-Carey Syndrome 2
Atresia of the external auditory canal, Hearing impairment OMIM:619981
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment OMIM:125250
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology OMIM:611890
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Conductive hearing impairment, Joint contracture of the hand, Stenosis of the external auditory c... OMIM:608257
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:949
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Perlman Syndrome
Abnormal pancreas morphology, Hyperinsulinemia, Hepatomegaly, High, narrow palate, Cryptorchidism ORPHA:2849
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Cooper-Jabs Syndrome
Conductive hearing impairment, Abnormality of the middle ear, Reduced bone mineral density, Campt... ORPHA:1488
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology OMIM:611067
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Conductive hearing impairment, Dislocated radial head, Flexion contracture, Delayed ossification ... OMIM:602471
Multiple Synostoses Syndrome 4
Otosclerosis, Tarsal synostosis OMIM:617898
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Bile duct pro... OMIM:208540
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Craniosynostosis, Abnormal audit... OMIM:201050
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Lateral Meningocele Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... ORPHA:2789
Multiple Synostoses Syndrome 1
Conductive hearing impairment, Stapes ankylosis, Carpal synostosis, Dislocated radial head, Proxi... OMIM:186500
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology OMIM:613724
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Atrioventricular canal de... ORPHA:453499
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Dilatated inte... ORPHA:1435
Hypertelorism, Microtia, Facial Clefting Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Microtia OMIM:239800
Isolated Cleft Lip
Abnormal Eustachian tube morphology, Conductive hearing impairment, Chronic otitis media, Polyhyd... ORPHA:199302
Verloove Vanhorick-Brubakk Syndrome
Atresia of the external auditory canal, Low-set ears, Tarsal synostosis, Microtia ORPHA:3429
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Lambotte Syndrome
Atresia of the external auditory canal, Macrotia OMIM:245552
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pallor of dorsal columns of t... OMIM:602433
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Otosclerosis, Reduced bone mineral density, Bowing of limbs due to multiple ... OMIM:166220
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Atresia of the external auditory canal, Wormian bones OMIM:601356
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... ORPHA:1215
Lateral Meningocele Syndrome
Conductive hearing impairment, Abnormality of the middle ear ossicles, Sclerosis of skull base, W... OMIM:130720
Crouzon Syndrome
Keratitis, Conductive hearing impairment, Coronal craniosynostosis, Atresia of the external audit... OMIM:123500
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Protruding ear, Microtia, Atresia of the external auditory canal, ... ORPHA:2316
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Protruding ear, Microtia, Atresia of the external auditory canal, ... OMIM:147770
Arthrogryposis, Distal, Type 2A
Recurrent fractures, Hip contracture, Flexion contracture of finger, Joint dislocation, Joint con... OMIM:193700
Otosclerosis 10
Otosclerosis OMIM:615589
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Hip dislocation, Abnormal auditory evoked potentials OMIM:109120
Diamond-Blackfan Anemia 11
Stenosis of the external auditory canal, Atresia of the external auditory canal, Radioulnar synos... OMIM:614900
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Low-set ears, Radioulnar synostosis OMIM:614701
Osteogenesis Imperfecta, Type I
Recurrent fractures, Otosclerosis, Osteopenia, Wormian bones, Increased susceptibility to fractur... OMIM:166200
Martinez-Frias Syndrome
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... OMIM:601346
Holoprosencephaly
Abnormal pulmonary valve morphology, Intestinal atresia, Encephalocele, Panhypopituitarism, Short... ORPHA:2162
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Primary Lateral Sclerosis
Atrophy of the spinal cord, Cervical spinal cord atrophy, Abnormal upper motor neuron morphology ORPHA:35689
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Low-set ears, Pseudopapilledema, Atresia of the external auditory canal, Hearing impairment, Dela... OMIM:264475
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Cryptorchidism ORPHA:435938
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Atopic dermatitis, Head titubation, Vestibular areflexia ORPHA:3240
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology ORPHA:275872
Craniosynostosis And Dental Anomalies
Conductive hearing impairment, Stapes ankylosis, Coronal craniosynostosis, Papilledema, Prominent... OMIM:614188
Mitchell-Riley Syndrome
Annular pancreas, Malabsorption, Duodenal atresia, Biliary atresia, Intestinal malrotation, Chole... OMIM:615710
Lethal Congenital Contracture Syndrome 1
Neonatal death, Paucity of anterior horn motor neurons OMIM:253310
Meckel Syndrome, Type 7
Aortic valve stenosis, Atrial septal defect, Right ventricular hypertrophy, Hepatosplenomegaly, C... OMIM:267010
Branchiootorenal Syndrome 1
High palate, Euthyroid goiter, Cleft palate, Intestinal malrotation, Branchial fistula, Bifid uvu... OMIM:113650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Atrial septal defect, Supernumerary nipple, Cleft palate, High, narrow pal... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Atrial septal defect, Supernumerary nipple, Cleft palate, High, narrow pal... ORPHA:352665
Nager Syndrome
Joint stiffness, Microtia, Low-set, posteriorly rotated ears, Atresia of the external auditory ca... ORPHA:245
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology ORPHA:2590
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Iridocyclitis, Chronic active hepatitis, Chronic oral candidiasis, Keratoconjunctivitis, Atrophic... OMIM:240300
Diamond-Blackfan Anemia 10
Low-set ears, Conductive hearing impairment, Microtia, Atresia of the external auditory canal, He... OMIM:613309
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Pancreatic fi... ORPHA:64744
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, Patent ductus arteriosus, High palate, Atrial septal defect OMIM:618162
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Diamond-Blackfan Anemia 7
Osteopenia, Osteoporosis, Atresia of the external auditory canal, Polyhydramnios, Esophagitis, Re... OMIM:612562
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Acrootoocular Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Pseudopapilledema, Atresia of th... ORPHA:2980
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Atresia of the external auditory canal, Delayed skeletal maturation, Low-set, posteriorly rotated... ORPHA:1770
Feingold Syndrome
Annular pancreas, Duodenal atresia, Abnormality of the spleen, Patent ductus arteriosus, Esophage... ORPHA:1305
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Mandibulofacial Dysostosis, Guion-Almeida Type
Conductive hearing impairment, Microtia, Overfolded helix, Atresia of the external auditory canal... OMIM:610536
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Exocrine pancreatic insufficiency, Biliary atresia, Ventricular sept... ORPHA:2255
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Action tremor, Flexion contracture, Abnormal autonomic nervous ... ORPHA:99027
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Delayed skeletal maturation, Abnormal audito... OMIM:619260
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... OMIM:265380
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... ORPHA:103918
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, High palate, Anal atresia, Webbed neck, Macroglossia, Branchial fistula... ORPHA:261337
Warburg-Cinotti Syndrome
Conductive hearing impairment, Joint swelling, Flexion contracture of finger, Ankle flexion contr... OMIM:618175
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:606070
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Tremor, Decreased nerve conduction velocity, Prol... ORPHA:206443
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Steatorrhea, Pancreatic pseudocyst, Diabetes mel... OMIM:167800
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:608030
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, High, narrow palate, Cleft palate, Branchial fistula, Ventricular septal de... ORPHA:261330
Kapur-Toriello Syndrome
Atresia of the external auditory canal, Low-set ears, Posteriorly rotated ears ORPHA:2328
Schinzel-Giedion Syndrome
Large earlobe, Sclerosis of skull base, Abnormal helix morphology, Infantile sensorineural hearin... ORPHA:798
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Pancreatic fibrosis OMIM:615503
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Flexion contracture of fin... ORPHA:101085
Dextrocardia
Webbed neck, Intestinal malrotation, Abnormality of the spleen, Situs inversus totalis, Dextrocar... ORPHA:1666
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:105400
Mucopolysaccharidosis Type 3
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Conductive hearing impa... ORPHA:581
Campomelia, Cumming Type
Polycystic liver disease, Cystic hygroma, Polysplenia, Pancreatic cysts OMIM:211890
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology ORPHA:1145
Aceruloplasminemia
Torticollis, Abnormal pancreas morphology, Abnormal thalamic MRI signal intensity, Elevated hepat... ORPHA:48818
Treacher-Collins Syndrome
High palate, Cleft palate, Encephalocele, Glossoptosis, Tracheoesophageal fistula, Hypoplasia of ... ORPHA:861
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Atresia of the external auditory canal, Conductive hearing impairment, Blepharitis, Conjunctivitis OMIM:106260
16P13.11 Microdeletion Syndrome
Sensorineural hearing impairment, EEG abnormality, Camptodactyly of finger, Atresia of the extern... ORPHA:261236
Bohring-Opitz Syndrome
Narrow palate, Atrial septal defect, Supernumerary nipple, Intestinal malrotation, Hyperechogenic... OMIM:605039
Barber-Say Syndrome
Atresia of the external auditory canal, Hearing impairment, Abnormal pinna morphology ORPHA:1231
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Duodenal stenos... ORPHA:2470
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Van Maldergem Syndrome 2
Sensorineural hearing impairment, Conductive hearing impairment, Microtia, Tracheomalacia, Osteop... OMIM:615546
Chromosome 18Q Deletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Stenosis of the external auditor... OMIM:601808
Trisomy 8P
Conductive hearing impairment, Multiple joint contractures, Morphological abnormality of the midd... ORPHA:264450
Van Maldergem Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Microtia, Tracheomalacia, Osteop... OMIM:601390
Isotretinoin-Like Syndrome
Microtia, Anotia, Aplasia/Hypoplasia of the inner ear, Atresia of the external auditory canal, Bi... ORPHA:2306
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Abnormality of peripheral nerve conduction, Optic atrophy, T... ORPHA:90321
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:205100
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Generalized Arterial Calcification Of Infancy
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Hypophosphatem... ORPHA:51608
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect ORPHA:2260
Trisomy 10P
Flexion contracture of thumb, EEG with focal spikes, Abnormality of the ear, Wide cranial sutures... ORPHA:171929
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Microtia, Anotia, Hydrops fetalis, Atresia of the external auditory canal, Hearin... ORPHA:268249
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Colon perforation, Pulmonic stenosis, Total ab... OMIM:600001
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Pulmonary edema, Optic atr... ORPHA:79330
Infantile Krabbe Disease
Decreased nerve conduction velocity, Opisthotonus, Ankle clonus, Optic atrophy, Hearing impairmen... ORPHA:206436
Meier-Gorlin Syndrome 1
Low-set ears, Genu recurvatum, Joint contracture of the hand, Flexion contracture, Microtia, Abse... OMIM:224690
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogen... ORPHA:456312
Distal Monosomy 12Q
Annular pancreas, Pituitary adenoma, Congenital hypertrophy of left ventricle, Duodenal atresia, ... ORPHA:96149
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Absent brainstem auditory responses, Torticollis, Hypoplasia of... OMIM:609136
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Neurofaciodigitorenal Syndrome
External ear malformation, Atresia of the external auditory canal, Abnormal tragus morphology, Ab... ORPHA:2673
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Cleft palate, Intestinal malrotation, Pancreatic fibrosis, Ventricular sept... OMIM:263520
Igg4-Related Submandibular Gland Disease
Abnormality of the thyroid gland, Abnormal pancreas morphology, Sialadenitis, Xerostomia, Abnorma... ORPHA:449432
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Encephalocele, Pancreatic fibrosis, Accessory spl... ORPHA:564
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Short neck, Hypoplasia of the small intesti... OMIM:200995
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:300857
Feingold Syndrome 1
Annular pancreas, High palate, Duodenal atresia, Tracheoesophageal fistula, Accessory spleen, Pat... OMIM:164280
Ear-Patella-Short Stature Syndrome
Craniosynostosis, Camptodactyly of finger, Anotia, Atresia of the external auditory canal, Hearin... ORPHA:2554
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Fryns Syndrome
Anal atresia, Duodenal atresia, Atrial septal defect, Cleft palate, Intestinal malrotation, Esoph... OMIM:229850
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Jacobsen Syndrome
Annular pancreas, Atrial septal defect, Short neck, Ventricular septal defect, Pyloric stenosis, ... OMIM:147791
Non-Acquired Panhypopituitarism
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... ORPHA:90695
Fraser Syndrome 1
Conductive hearing impairment, Abnormal pinna morphology, Hypoplastic superior helix, Cupped ear,... OMIM:219000
Pearson Syndrome
Hypoparathyroidism, Adrenal insufficiency, Exocrine pancreatic insufficiency, Hepatomegaly, Decre... ORPHA:699
Jacobsen Syndrome
Annular pancreas, Ectopic anus, Duodenal atresia, Webbed neck, Aortic valve stenosis, Hypoplastic... ORPHA:2308
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Pfeiffer Syndrome Type 2
Atresia of the external auditory canal, Low-set ears, Limitation of joint mobility, Tracheomalacia ORPHA:93259
Fanconi Anemia, Complementation Group D2
Annular pancreas, Hypergonadotropic hypogonadism, Tracheoesophageal fistula, Patent ductus arteri... OMIM:227646
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:600274
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism, He... ORPHA:116
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Splenomegaly, Neonatal death, Hepatic cysts, Esophageal varix,... OMIM:263200
Campomelia, Cumming Type
Hepatomegaly, Cleft palate, Abnormality of the pancreas, Cystic hygroma, Abnormal intestine morph... ORPHA:1318
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Steatorrhea, Pancreatic fibrosis, Hypothyroidism, Hepatic fibrosis, Delayed puberty... OMIM:616263
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Polycystic liver disease, Hepatic cysts, Mitral valve prol... ORPHA:730
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, Spinocerebellar trac... ORPHA:276244
Acrofacial Dysostosis 1, Nager Type
Conductive hearing impairment, Limited elbow extension, Radioulnar synostosis, Atresia of the ext... OMIM:154400
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Malrotation of colon, Cleft palate ORPHA:1190
Shwachman-Diamond Syndrome 2
High palate, Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Hyperechogenic pancreas OMIM:617941
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Hiatus hernia, Splenomegaly, Congenital hypothyroidism, Cholestasis, Pancreatic hyp... OMIM:610199
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Cupped ear, Atresia of the external auditory canal, Hearing impairment, Dela... ORPHA:264200
Alveolar Echinococcosis
Abnormal pericardium morphology, Abnormal spleen morphology, Hepatic cysts, Liver abscess, Abnorm... ORPHA:284
Pancreatic Agenesis 1
Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Exocrine pancreatic insufficien... OMIM:260370
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, High palate, Duodenal atresia, Ventricular septal defect, Furrowed tongue, Pate... OMIM:616975
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... ORPHA:95494
Cerebrocostomandibular Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Tracheomalacia ORPHA:1393
Bosma Arhinia Microphthalmia Syndrome
Atresia of the external auditory canal, Conductive hearing impairment, Abnormal pinna morphology,... OMIM:603457
Glycogen Storage Disease Ib
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Inflamma... OMIM:232220
8Q24.3 Microdeletion Syndrome
Exocrine pancreatic insufficiency, Cleft maxillary alveolus, Atrioventricular canal defect, Short... ORPHA:508488
Nephronophthisis 13
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:614377
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Resting ... ORPHA:909
Bohring-Opitz Syndrome
Cholelithiasis, Abnormal cardiac septum morphology, Annular pancreas, Cleft palate, Cardiomegaly ORPHA:97297
Cockayne Syndrome A
Sensorineural hearing impairment, Hip contracture, Abnormal pinna morphology, Ivory epiphyses of ... OMIM:216400
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Ivory epiphyses of the phalanges of ... OMIM:133540
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
17Q24.2 Microdeletion Syndrome
Otosclerosis, Microtia, Abnormality of the ankles, Abnormality of the wrist, Cubitus valgus, Recu... ORPHA:529962
Kaposiform Lymphangiomatosis
Abnormality of the neck, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morp... ORPHA:464329
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Hepatic fibrosis, Bile duct proliferation, Jaundic... OMIM:208500
Senior-Loken Syndrome 8
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:616307
Orofaciodigital Syndrome I
Myelomeningocele, High palate, Cleft palate, Hypothalamic hamartoma, Ovarian cyst, Bifid tongue, ... OMIM:311200
1P36 Deletion Syndrome
Annular pancreas, Abnormal cardiac septum morphology, Abnormality of the anus, Abnormality of the... ORPHA:1606
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... OMIM:608189
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Malabsorption, Hepatomegaly, Steatorrhea, Pancreatic fibrosis,... OMIM:557000
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Atresia of the external auditory canal, Abnormality of the outer ear, Hearing impairment ORPHA:3186
Treacher Collins Syndrome 1
Atresia of the external auditory canal, Conductive hearing impairment, Microtia OMIM:154500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Microtia, Optic nerve hypoplasia, Atresia of the external auditory canal, Optic atrophy, Low-set ... OMIM:236670
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Abnormal Eustachian tube morphology, Lower-limb joint contracture, Tracheomalacia, Recurrent otit... ORPHA:513456
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis ORPHA:803
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Paucity of anterior horn motor neurons ORPHA:79139
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, High palate, Delayed eruption of teeth, Anteriorly placed anus, Hypogonadism, C... OMIM:268400
Ablepharon Macrostomia Syndrome
Atresia of the external auditory canal, Hearing impairment, Camptodactyly of finger, Microtia ORPHA:920
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Hypothyroidism,... ORPHA:93111
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Monosomy 9P
Abnormal antihelix morphology, Microtia, Anotia, Atresia of the external auditory canal, Low-set ... ORPHA:261112
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Paraganglioma, Myocarditis, Elevated circulating catecholamine level, C... ORPHA:892
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas, Ankyloglossia, Cleft palate ORPHA:488642
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:608627
Pallister-Hall Syndrome
Microtia, Atresia of the external auditory canal, Radial head subluxation, Hip dislocation, Poste... OMIM:146510
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Mucopolysaccharidosis Type 2
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Flexion contractur... ORPHA:580
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis OMIM:615911
Witteveen-Kolk Syndrome
High palate, Type II diabetes mellitus, Decreased response to growth hormone stimulation test, Hi... OMIM:613406
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pheochromocytoma, Hepatic hemangioma, Paraganglioma, Pancreatic cysts OMIM:193300
Nephronophthisis-Like Nephropathy 1
Chronic pancreatitis, Pancreatic cysts OMIM:613159
Mucopolysaccharidosis Type 2, Severe Form
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Flexion contractur... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Flexion contractur... ORPHA:217093
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology OMIM:614298
Cornelia De Lange Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Joint stiffness, Blepharitis, Lo... ORPHA:199
Immunodeficiency 82 With Systemic Inflammation
Joint swelling, Crohn's disease, Osteomyelitis, Gastritis, Colitis, Skin rash, Recurrent skin inf... OMIM:619381
17Q12 Microdeletion Syndrome
Pancreatic aplasia, Cryptorchidism, Diabetes mellitus ORPHA:261265
Craniofacial Microsomia
Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Branchial... OMIM:164210
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Periportal fibrosis, Splenomegaly, Hepatosplenomegaly, Choles... ORPHA:731
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Fraser Syndrome
Conductive hearing impairment, Abnormality of the middle ear, External ear malformation, Low-set,... ORPHA:2052
Pancreatic Agenesis-Holoprosencephaly Syndrome
Neonatal insulin-dependent diabetes mellitus, Pancreatic aplasia, Absent gallbladder, High palate ORPHA:556955
Doors Syndrome
EEG abnormality, Aspiration pneumonia, Atresia of the external auditory canal, Polyhydramnios, Sa... ORPHA:79500
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Syringomyelia, Myelitis ORPHA:1320
Pallister-Hall Syndrome
Auricular tag, Microtia, Low-set, posteriorly rotated ears, Atresia of the external auditory cana... ORPHA:672
Bladder Exstrophy
Intestinal malrotation, Umbilical hernia, Abnormality of the anus ORPHA:93930

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 Isl1

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 Isl1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Disruption of spatiotemporal hypoxic signaling causes congenital heart disease in mice. The Journal of clinical investigation (April 2017) Isl1tm1a(KOMP)Wtsi PMC5451223

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MGI Allele Allele Type Produced
Isl1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Isl1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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