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

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 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
Abnormality of the anus, Intestinal malrotation, Umbilical hernia 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
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the pinna, ... OMIM:221300
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, Abnormality of the stapes, Facial paralysis, External ear malforma... OMIM:124490
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the antihelix, Conductive hearing impairment, Hypoplasia of the antihelix, Aplasia... ORPHA:3232
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... OMIM:108760
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
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Stapes ankylosis, Conductive hearing impairment... OMIM:185800
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Atresia of the external auditory canal, Chronic otitis media OMIM:221320
Lambert Syndrome
Branchial anomaly, Ventricular septal defect, Cholestasis, Jaundice, Intrahepatic biliary atresia ORPHA:1296
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Large earlobe, Absent tragus, Overfolded helix, Conductive hearing ... ORPHA:79113
Branchiootic Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Morphological abnormality ... ORPHA:52429
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Hearing impairment, Atresia of the external auditory canal ORPHA:3023
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Conductive hearing impairment, Proximal/middle symphalangism of 5th finger, Fus... OMIM:184460
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Atresia of the external auditory canal, Bilateral conductive hearing impairmen... ORPHA:2010
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Coxoauricular Syndrome
Atresia of the external auditory canal, Reduced bone mineral density, Hearing impairment, Hip dis... ORPHA:1508
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Non-Syndromic Genetic Deafness
Progressive sensorineural hearing impairment, High-frequency hearing impairment, Low-frequency se... ORPHA:87884
Branchiogenic Deafness Syndrome
Osteolytic defects of the distal phalanges of the hand, Abnormality of the middle ear ossicles, A... ORPHA:50815
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Microtia OMIM:251800
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... OMIM:602433
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:614373
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Abnormality of the middle ear ossicles, Atresia of the external auditor... OMIM:609166
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
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... ORPHA:3236
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology OMIM:607641
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, At... ORPHA:107
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Atresia of the external auditory canal OMIM:209770
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Atresia of the external auditory canal, Congenital hip dislocation OMIM:133705
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Otofaciocervical Syndrome
Abnormality of the antihelix, Macrotia, Conductive hearing impairment, Atresia of the external au... ORPHA:2792
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Abnormal heart morphol... ORPHA:139507
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial pa... OMIM:617519
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Microtia ORPHA:2213
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Microtia OMIM:141400
X-Linked Mandibulofacial Dysostosis
Cryptorchidism, Branchial anomaly, Abnormal mitral valve morphology, Webbed neck, Pulmonic stenos... ORPHA:1131
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au... ORPHA:2549
Microtia
Anotia, Hypoplastic helices, Atresia of the external auditory canal, Abnormality of the pinna, Mi... ORPHA:83463
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Intestinal malrotation,... ORPHA:210122
Smith-Magenis Syndrome
Abnormality of the outer ear, Hearing impairment, EEG abnormality, Morphological abnormality of t... OMIM:182290
Branchiooculofacial Syndrome
Overfolded helix, Conductive hearing impairment, Posteriorly rotated ears, Low-set ears, Hearing ... OMIM:113620
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Mohr-Tranebjaerg Syndrome
Tremor, Vestibular dysfunction, Ankle clonus, Absent brainstem auditory responses, Sensorineural ... ORPHA:52368
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Anotia, Conductive hearing impairment, Atresia of the external auditory canal, Camptodactyly, Ste... OMIM:608257
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Neonatal death, Paucity of anterior horn motor neurons OMIM:611890
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Acrocraniofacial Dysostosis
Abnormality of the incus, Abnormality of the middle ear ossicles, Craniosynostosis, Abnormality o... ORPHA:949
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:205100
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Cooper-Jabs Syndrome
Camptodactyly of finger, Conductive hearing impairment, Low-set, posteriorly rotated ears, Atresi... ORPHA:1488
Perlman Syndrome
Cryptorchidism, Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, High, narrow palate ORPHA:2849
Multiple Synostoses Syndrome 4
Otosclerosis, Tarsal synostosis OMIM:617898
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Scapulohumeral synostosis, Conductive hearing impairment, Atresia of the ... OMIM:602471
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Acrocraniofacial Dysostosis
Craniosynostosis, Conductive hearing impairment, Abnormality of the outer ear, Abnormal auditory ... OMIM:201050
Multiple Synostoses Syndrome 1
Dislocated radial head, Cubitus valgus, Tarsal synostosis, Stapes ankylosis, Proximal symphalangi... OMIM:186500
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Pancreatic cysts, Biliary cirrhosis, Patent ductus ... OMIM:267010
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology OMIM:611067
Lateral Meningocele Syndrome
Wormian bones, Abnormality of the middle ear ossicles, Conductive hearing impairment, Joint hyper... ORPHA:2789
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology OMIM:613724
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis,... OMIM:208540
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Cryptorchidism, Macroglossia, Atrial septal defect, Branchial anomaly, Abnormal h... 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
Hypertelorism, Microtia, Facial Clefting Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Microtia OMIM:239800
Xq21 Microdeletion Syndrome
Stapes ankylosis, Conductive hearing impairment, Ankle clonus, Sensorineural hearing impairment, ... ORPHA:1435
Isolated Cleft Lip
Conductive hearing impairment, Chronic otitis media, Polyhydramnios, Abnormality of the Eustachia... ORPHA:199302
Verloove Vanhorick-Brubakk Syndrome
Low-set ears, Atresia of the external auditory canal, Tarsal synostosis, Microtia ORPHA:3429
Lambotte Syndrome
Atresia of the external auditory canal, Macrotia OMIM:245552
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Wormian bones, Recurrent fractures, Reduced bone mineral density, Hearing impairmen... OMIM:166220
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Atresia of the external auditory canal OMIM:601356
Arthrogryposis, Distal, Type 2A
Polyhydramnios, Restricted neck movement due to contractures, Flexion contracture of finger, Olig... OMIM:193700
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Otosclerosis 10
Otosclerosis OMIM:615589
Lateral Meningocele Syndrome
Joint hypermobility, Abnormality of the middle ear ossicles, Wormian bones, Conductive hearing im... OMIM:130720
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Protruding ear, Facial pal... ORPHA:2316
Crouzon Syndrome
Lambdoidal craniosynostosis, Conductive hearing impairment, Atresia of the external auditory cana... OMIM:123500
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Protruding ear, Facial pal... OMIM:147770
Diamond-Blackfan Anemia 11
Atresia of the external auditory canal, Stenosis of the external auditory canal, Radioulnar synos... OMIM:614900
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Hip dislocation, Sensorineural hearing impairment OMIM:109120
Campomelia, Cumming Type
Cystic hygroma, Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Osteogenesis Imperfecta, Type I
Otosclerosis, Joint hypermobility, Wormian bones, Recurrent fractures, Hearing impairment, Increa... OMIM:166200
Holoprosencephaly
Cryptorchidism, Panhypopituitarism, Median cleft lip and palate, Aplasia/Hypoplasia of the corpus... ORPHA:2162
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia... OMIM:601346
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Cryptorchidism, Microcephaly, Branchial cyst ORPHA:435938
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis ORPHA:52430
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Intestinal malrotation, Jejunal atresia, Cholestasis, Duodenal... OMIM:615710
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cystic hygroma, Cryptorchidism, Macroglossia, Atrial septal defect, Branchial anomaly, Abnormal h... ORPHA:453504
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Intestinal malrotation, Abnormal cerebral morphology, Cleft pa... OMIM:113650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cystic hygroma, Cryptorchidism, Macroglossia, Atrial septal defect, Branchial anomaly, Abnormal h... ORPHA:352665
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Diamond-Blackfan Anemia 10
Conductive hearing impairment, Atresia of the external auditory canal, Posteriorly rotated ears, ... OMIM:613309
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Atopic dermatitis, Head titubation ORPHA:3240
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Atresia of the external auditory canal, Low-set ears, Pseudopapilledema, Hearing impairment, Dela... OMIM:264475
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology ORPHA:275872
Nager Syndrome
Low-set, posteriorly rotated ears, Atresia of the external auditory canal, Hearing impairment, Jo... ORPHA:245
Lethal Congenital Contracture Syndrome 1
Neonatal death, Paucity of anterior horn motor neurons OMIM:253310
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Duodenal Atresia
Duodenal atresia, Abnormality of the pancreas, Annular pancreas ORPHA:1203
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Iridocyclitis, Chronic oral candidiasis, Chronic active hepatitis, Tympanosclerosis, Chronic atro... OMIM:240300
Feingold Syndrome
Patent ductus arteriosus, Esophageal atresia, Duodenal atresia, Microcephaly, Abnormality of the ... ORPHA:1305
Spondyloepimetaphyseal Dysplasia, Krakow Type
High palate, Atrial septal defect, Patent ductus arteriosus, Annular pancreas OMIM:618162
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Atresia of the external auditory canal, Delayed skeletal matur... ORPHA:1770
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis OMIM:617839
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Acrootoocular Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Low-set ears, Pseudopapill... ORPHA:2980
Orofaciodigital Syndrome I
Ovarian cyst, Hypothalamic hamartoma, Porencephalic cyst, Tongue nodules, Abnormal heart morpholo... OMIM:311200
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology ORPHA:2590
Diamond-Blackfan Anemia 7
Osteoporosis, Esophagitis, Polyhydramnios, Atresia of the external auditory canal, Recurrent otit... OMIM:612562
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:606070
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Intestinal malrotation, Patent ductus arteriosus, Congenital hypothyroidism, Pancreatic hypoplasi... ORPHA:2255
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Mandibulofacial Dysostosis, Guion-Almeida Type
Overfolded helix, Conductive hearing impairment, Atresia of the external auditory canal, Low-set ... OMIM:610536
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Adult-Onset Autosomal Dominant Leukodystrophy
Tremor, Autonomic bladder dysfunction, Orthostatic hypotension, Flexion contracture, Head titubat... ORPHA:99027
Nephronophthisis 13
Hepatic cysts, Pancreatic cysts OMIM:614377
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Esophageal varix, Hepatomegaly, Neonatal de... OMIM:263200
Bohring-Opitz Syndrome
Atrial septal defect, Narrow palate, Ventricular septal defect, Hyperechogenic pancreas, Hypoplas... OMIM:605039
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Macroglossia, Ventricular septal defect, Webbed neck, Branchial fistula, Patent d... ORPHA:261337
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Senior-Loken Syndrome 8
Hepatic cysts, Pancreatic cysts OMIM:616307
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis OMIM:613954
Campomelia, Cumming Type
Cystic hygroma, Pancreatic cysts, Hepatomegaly, Abnormality of the pancreas, Cleft palate, Abnorm... ORPHA:1318
Hemifacial Microsomia
Branchial anomaly, Ventricular septal defect, Patent ductus arteriosus, Cleft palate, Tetralogy o... OMIM:164210
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:608030
Warburg-Cinotti Syndrome
Hypoplasia of the ear cartilage, Joint swelling, Flexion contracture of finger, Conductive hearin... OMIM:618175
Late-Infantile/Juvenile Krabbe Disease
Tremor, Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic act... ORPHA:206443
Aceruloplasminemia
Abnormal thalamic MRI signal intensity, Abnormal pancreas morphology, Torticollis, Elevated hepat... ORPHA:48818
Charcot-Marie-Tooth Disease Type 1F
Flexion contracture of finger, Head tremor, Absent brainstem auditory responses, Sensorineural he... ORPHA:101085
Schinzel-Giedion Syndrome
Wormian bones, Stiff elbow, Infantile sensorineural hearing impairment, Radioulnar synostosis, Hy... ORPHA:798
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Pancreatic cysts, Umbilical hernia, Cholestasis, Hepatic fibrosis, Hepatomegaly, H... OMIM:610199
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Steatorrhea, Pancreatic calcification, ... OMIM:167800
Kapur-Toriello Syndrome
Posteriorly rotated ears, Atresia of the external auditory canal, Low-set ears ORPHA:2328
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Abnormal upper motor neuron morphology OMIM:607694
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Ventricular septal defect OMIM:615503
Distal 22Q11.2 Microdeletion Syndrome
Ankyloglossia, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Branchial fis... ORPHA:261330
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hepatic cysts, Pancreatic cysts, Polycystic liver disease,... ORPHA:730
Dextrocardia
Meckel diverticulum, Situs inversus totalis, Abnormal heart morphology, Webbed neck, Intestinal m... ORPHA:1666
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:105400
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Delayed skeletal maturatio... OMIM:619260
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells ORPHA:1145
Mucopolysaccharidosis Type 3
Genu valgum, Thickened helices, Abnormality of the middle ear ossicles, Conductive hearing impair... ORPHA:581
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Duodenal stenosis... ORPHA:2470
Alveolar Echinococcosis
Abnormality of mesentery morphology, Hepatic cysts, Pancreatic cysts, Biliary cirrhosis, Abnormal... ORPHA:284
Barber-Say Syndrome
Hearing impairment, Atresia of the external auditory canal, Abnormality of the pinna ORPHA:1231
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Trisomy 8P
Metopic suture patent to nasal root, Conductive hearing impairment, Morphological abnormality of ... ORPHA:264450
Isotretinoin-Like Syndrome
Anotia, Aplasia/Hypoplasia of the inner ear, Atresia of the external auditory canal, Bilateral se... ORPHA:2306
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Chromosome 18Q Deletion Syndrome
Tremor, Atopic dermatitis, Joint laxity, Macrotia, Conductive hearing impairment, Atresia of the ... OMIM:601808
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Atresia of the external auditory canal, Low-set ears, Sensorineural hear... ORPHA:261236
Pearson Marrow-Pancreas Syndrome
Malabsorption, Type I diabetes mellitus, Pancreatic fibrosis, Diabetes mellitus OMIM:557000
Cockayne Syndrome Type 1
Tremor, Macrotia, Uveitis, Conjunctivitis, Hearing impairment, Absent brainstem auditory response... ORPHA:90321
Treacher-Collins Syndrome
Cryptorchidism, Branchial fistula, Patent ductus arteriosus, Hypoplasia of the thymus, Rectovagin... ORPHA:861
Kaposiform Lymphangiomatosis
Pancreatic cysts, Pericardial effusion, Abnormal spleen morphology, Splenomegaly, Hepatosplenomeg... ORPHA:464329
Heart Defects, Congenital, And Other Congenital Anomalies
Intestinal malrotation, Patent ductus arteriosus, Pancreatic hypoplasia, Microcolon, Patent foram... OMIM:600001
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Abnormality of the knee, Polyhydramnios, Hydrops fetalis, Ab... ORPHA:51608
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Long-segment aganglionic megacolon, Abnormal autonomic nerv... OMIM:609136
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Trisomy 10P
Flexion contracture of thumb, Low voltage EEG, Abnormal hip joint morphology, Macrotia, Camptodac... ORPHA:171929
Van Maldergem Syndrome 2
Joint laxity, Conductive hearing impairment, Atresia of the external auditory canal, Sensorineura... OMIM:615546
Distal Monosomy 12Q
Maturity-onset diabetes of the young, Short neck, Biliary atresia, Patent ductus arteriosus, Esop... ORPHA:96149
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Pachygyria, Ventricular septal defect, Hamartoma of tongue, Intestinal malr... OMIM:263520
Van Maldergem Syndrome 1
Joint laxity, Conductive hearing impairment, Atresia of the external auditory canal, Sensorineura... OMIM:601390
Mycophenolate Mofetil Embryopathy
Anotia, Hydrops fetalis, Atresia of the external auditory canal, Hearing impairment, Microtia ORPHA:268249
Meier-Gorlin Syndrome 1
Genu valgum, Joint laxity, Elbow dislocation, Atresia of the external auditory canal, Camptodacty... OMIM:224690
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conductive hearing impairment, Conjunctivitis, Atresia of the external auditory canal, Blepharitis OMIM:106260
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Patent ductus arteriosus, Patent foramen ovale, Annular pancreas, Parachu... OMIM:265380
Jacobsen Syndrome
Cryptorchidism, Spina bifida, Short neck, Pachygyria, Ventricular septal defect, Webbed neck, Cer... ORPHA:2308
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hypothyroidism, Hepatomegaly, Delayed... ORPHA:456312
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ankle clonus, Opisthotonus, Hearing impairment, D... ORPHA:206436
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Agenesis of corpus callosum, Abnormal heart morphology, Hypergonadotropic hypogon... OMIM:227646
Pancreatic Agenesis 1
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insuffic... OMIM:260370
Jacobsen Syndrome
Cryptorchidism, Atrial septal defect, Short neck, Ventricular septal defect, Microcephaly, Pylori... OMIM:147791
Neurofaciodigitorenal Syndrome
Atresia of the external auditory canal, Abnormality of the elbow, Low-set ears, Abnormality of th... ORPHA:2673
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Ear-Patella-Short Stature Syndrome
Anotia, Camptodactyly of finger, Craniosynostosis, Elbow dislocation, Joint hyperflexibility, Atr... ORPHA:2554
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Fraser Syndrome 1
Conductive hearing impairment, Atresia of the external auditory canal, Morphological abnormality ... OMIM:219000
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst ORPHA:2260
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Cavum septum pellucidum, Spina bifida, Atrial septal defect, Ventricular sep... OMIM:274000
Acrocephalopolydactylous Dysplasia
Polysplenia, Hypoplastic colon, Hypoplasia of the small intestine, Pancreatic fibrosis, Hepatic f... OMIM:200995
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis OMIM:615911
Fryns Syndrome
Meckel diverticulum, Cryptorchidism, Atrial septal defect, Stillbirth, Ventricular septal defect,... OMIM:229850
Non-Acquired Panhypopituitarism
Decreased circulating ACTH level, Ectopic anterior pituitary gland, Absence of secondary sex char... ORPHA:90695
Meckel Syndrome
Cryptorchidism, Accessory spleen, Situs inversus totalis, Aplasia/Hypoplasia of the corpus callos... ORPHA:564
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland morphology, Enlargement of paroti... ORPHA:449432
Feingold Syndrome 1
Accessory spleen, Polysplenia, Patent ductus arteriosus, Esophageal atresia, Duodenal atresia, As... OMIM:164280
Pearson Syndrome
Median cleft lip and palate, Exocrine pancreatic insufficiency, Abnormal heart morphology, Hepati... ORPHA:699
Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:600274
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hypothyroidism, Steatorrhea, Pancreatic fibrosis, Hepatic fibrosis, Hepatomega... OMIM:616263
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Steatorrhea, Hepatomegaly, High palat... OMIM:617941
Von Hippel-Lindau Disease
Pancreatic endocrine tumor, Pancreatic cysts, Cardiomyopathy, Adrenal pheochromocytoma, Paragangl... ORPHA:892
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cryptorchidism, Ventricular septal defect, Hypoplasia of the corpus callosum, Patent ductus arter... OMIM:616975
Combined Pituitary Hormone Deficiencies, Genetic Forms
Median cleft lip and palate, Decreased circulating ACTH level, Ectopic anterior pituitary gland, ... ORPHA:95494
Beckwith-Wiedemann Syndrome
Cryptorchidism, Macroglossia, Exocrine pancreatic insufficiency, Pseudohypoparathyroidism, Hypoth... ORPHA:116
Bohring-Opitz Syndrome
Hypoplasia of the corpus callosum, Cholelithiasis, Cardiomegaly, Cleft palate, Microcephaly, Abno... ORPHA:97297
14Q22Q23 Microdeletion Syndrome
Atresia of the external auditory canal, Posteriorly rotated ears, Cupped ear, Hearing impairment,... ORPHA:264200
Pfeiffer Syndrome Type 2
Low-set ears, Atresia of the external auditory canal, Limitation of joint mobility ORPHA:93259
Acrofacial Dysostosis 1, Nager Type
Limited elbow extension, Radioulnar synostosis, Conductive hearing impairment, Atresia of the ext... OMIM:154400
Atelosteogenesis Type I
Malrotation of colon, Abnormal pancreatic duct morphology, Cleft palate ORPHA:1190
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Cockayne Syndrome A
Tremor, Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hearing impa... OMIM:216400
Bosma Arhinia Microphthalmia Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Abnormality of the pinna, ... OMIM:603457
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Spinocerebellar tract degeneration, Degeneration of anter... ORPHA:276244
Von Hippel-Lindau Syndrome
Pheochromocytoma, Pancreatic cysts, Paraganglioma, Neoplasm of the pancreas, Abnormality of the l... OMIM:193300
8Q24.3 Microdeletion Syndrome
Truncus arteriosus, Exocrine pancreatic insufficiency, Abnormal heart morphology, Ventricular sep... ORPHA:508488
Cockayne Syndrome B
Osteoporosis, Tremor, Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineura... OMIM:133540
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
1P36 Deletion Syndrome
Cryptorchidism, Agenesis of corpus callosum, Abnormal heart valve morphology, Hepatic steatosis, ... ORPHA:1606
17Q24.2 Microdeletion Syndrome
Otosclerosis, Cubitus valgus, Recurrent otitis media, Abnormality of the wrist, Progressive condu... ORPHA:529962
Cerebrocostomandibular Syndrome
Conductive hearing impairment, Atresia of the external auditory canal ORPHA:1393
Cerebrotendinous Xanthomatosis
Osteoporosis, Abnormality of the elbow, Resting tremor, Abnormal motor evoked potentials, Abnorma... ORPHA:909
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Polycystic liver disease, Pancreatic fibrosis, Hepatic fibrosis, Jaundice, Bile... OMIM:208500
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hearing impairment, Atresia of the external auditory canal, Abnormality of the outer ear ORPHA:3186
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:300857
Autosomal Recessive Polycystic Kidney Disease
Fat malabsorption, Pancreatic cysts, Periportal fibrosis, Biliary hyperplasia, Cholestasis, Hepat... ORPHA:731
Treacher Collins Syndrome 1
Conductive hearing impairment, Atresia of the external auditory canal, Microtia OMIM:154500
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:608627
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Insulin-dependent but ketosis-resistant diabe... OMIM:608189
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Contractures of the joints of the lower limbs, Recurrent otitis media, Abnormality of the Eustach... ORPHA:513456
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis ORPHA:803
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Atresia of the external auditory canal, Congenital contracture, Low-set ears, Optic nerve hypopla... OMIM:236670
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Delayed eruption of teeth, High palate, Hypogonadism, Anteriorly placed anus, Ann... OMIM:268400
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Paucity of anterior horn motor neurons ORPHA:79139
Monosomy 9P
Anotia, Abnormality of the antihelix, Atresia of the external auditory canal, Low-set ears, Limit... ORPHA:261112
Ablepharon Macrostomia Syndrome
Hearing impairment, Atresia of the external auditory canal, Camptodactyly of finger, Microtia ORPHA:920
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hepatic steatosis, Hypothyroidism, Jaundice, Abnormality of exocrine pancreas physiology, Diabete... ORPHA:93111
Pallister-Hall Syndrome
Atresia of the external auditory canal, Radial head subluxation, Posteriorly rotated ears, Hip di... OMIM:146510
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Primary microcephaly, Ankyloglossia, Annular pancreas, Cleft palate ORPHA:488642
Mucopolysaccharidosis Type 2
Otosclerosis, Hip osteoarthritis, Conductive hearing impairment, Papilledema, Flexion contracture... ORPHA:580
Orofaciodigital Syndrome Type 1
Exocrine pancreatic insufficiency, Tongue nodules, Pancreatic cysts, Hamartoma of tongue, Abnorma... ORPHA:2750
17Q12 Microdeletion Syndrome
Cryptorchidism, Cerebral atrophy, Pancreatic aplasia, Subcortical cerebral atrophy, Diabetes mell... ORPHA:261265
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology OMIM:614298
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Camptodactyly of finger, Conductive hearing impairment, Flexion contracture, Papill... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Camptodactyly of finger, Conductive hearing impairment, Flexion contracture, Papill... ORPHA:217093
Pancreatic Agenesis-Holoprosencephaly Syndrome
Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, High palate, Absent gallbladder... ORPHA:556955
Cornelia De Lange Syndrome
Radioulnar synostosis, Macrotia, Conductive hearing impairment, Low-set, posteriorly rotated ears... ORPHA:199
Fraser Syndrome
Conductive hearing impairment, Low-set, posteriorly rotated ears, Atresia of the external auditor... ORPHA:2052
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Doors Syndrome
Polyhydramnios, Atresia of the external auditory canal, Low-set ears, Aspiration pneumonia, EEG a... ORPHA:79500
Pallister-Hall Syndrome
Oligohydramnios, Low-set, posteriorly rotated ears, Atresia of the external auditory canal, Radia... ORPHA:672
Bladder Exstrophy
Abnormality of the anus, Intestinal malrotation, Umbilical hernia 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
Isl1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Isl1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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