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Gene: Ildr1 MGI:2146574

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Gene Summary

Name:
immunoglobulin-like domain containing receptor 1
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
absent pinna reflex Ildr1tm1(KOMP)Wtsi HOM Early adult 2.99×10-18

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Viewing: all phenotypes

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 Skull Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Forepaw

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Legacy Phenotype Associated Images
Ildr1tm1(KOMP)Wtsi
HOM, Female, WTSI
Ildr1tm1(KOMP)Wtsi
HOM, Female, WTSI
Ildr1tm1(KOMP)Wtsi
HOM, Female, WTSI
Ildr1tm1(KOMP)Wtsi
HOM, Male, WTSI
Ildr1tm1(KOMP)Wtsi
HOM, Male, WTSI

View all 65 images

Ildr1tm1(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Female, WTSI
Ildr1tm1(KOMP)Wtsi
abnormal placement of pupils, abnormal pupil morphology, HOM, Male, WTSI

Human diseases caused by Ildr1 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 Ildr1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646

The table below shows human diseases predicted to be associated to Ildr1 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
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness-Oligodontia Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear ORPHA:3230
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Deafness, Autosomal Recessive 2
Vertigo, Sensorineural hearing impairment, Vestibular dysfunction OMIM:600060
Deafness, Autosomal Dominant 11
Vertigo, Vestibular dysfunction, Bilateral sensorineural hearing impairment OMIM:601317
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Deafness, Autosomal Recessive 94
Vestibular dysfunction, Bilateral sensorineural hearing impairment OMIM:618434
Deafness, Autosomal Recessive 48
Vestibular dysfunction, Profound sensorineural hearing impairment OMIM:609439
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Deafness, Autosomal Recessive 57
Hearing impairment, Sensorineural hearing impairment OMIM:618003
Usher Syndrome, Type Ic
Congenital sensorineural hearing impairment, Vestibular hypofunction OMIM:276904
Deafness, Autosomal Dominant 6
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Dominant 20
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Usher Syndrome, Type Iia
Congenital sensorineural hearing impairment OMIM:276901
Usher Syndrome, Type Iic
Congenital sensorineural hearing impairment OMIM:605472
Usher Syndrome, Type If
Congenital sensorineural hearing impairment OMIM:602083
Deafness, Autosomal Recessive 40
Prelingual sensorineural hearing impairment OMIM:608264
Deafness, Autosomal Recessive 39
Prelingual sensorineural hearing impairment OMIM:608265
Deafness, Autosomal Dominant 4A
Progressive sensorineural hearing impairment OMIM:600652
Deafness, Autosomal Recessive 71
Prelingual sensorineural hearing impairment OMIM:612789
Deafness, Autosomal Recessive 45
Prelingual sensorineural hearing impairment OMIM:612433
Deafness, Autosomal Dominant 5
Progressive sensorineural hearing impairment OMIM:600994
Deafness, Autosomal Recessive 62
Prelingual sensorineural hearing impairment OMIM:610143
Deafness, Autosomal Dominant 78
Profound sensorineural hearing impairment OMIM:619081
Deafness, Autosomal Dominant 79
Progressive sensorineural hearing impairment OMIM:619086
Deafness, Autosomal Recessive 49
Prelingual sensorineural hearing impairment OMIM:610153
Deafness, Autosomal Recessive 44
Prelingual sensorineural hearing impairment OMIM:610154
Deafness, Autosomal Recessive 12
Prelingual sensorineural hearing impairment OMIM:601386
Deafness, Autosomal Recessive 38
Prelingual sensorineural hearing impairment OMIM:608219
Deafness, Autosomal Recessive 24
Profound sensorineural hearing impairment OMIM:611022
Deafness, Autosomal Recessive 83
Prelingual sensorineural hearing impairment OMIM:613685
Deafness, Autosomal Recessive 46
Profound sensorineural hearing impairment OMIM:609647
Deafness, Autosomal Dominant 70
Progressive sensorineural hearing impairment OMIM:616968
Deafness, Autosomal Recessive 76
Progressive sensorineural hearing impairment OMIM:615540
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment OMIM:616515
Deafness, Autosomal Recessive 111
Progressive sensorineural hearing impairment OMIM:618145
Deafness, Autosomal Recessive 28
Severe sensorineural hearing impairment OMIM:609823
Deafness, Autosomal Recessive 85
Prelingual sensorineural hearing impairment OMIM:613392
Deafness, Autosomal Recessive 3
Profound sensorineural hearing impairment OMIM:600316
Deafness, Autosomal Recessive 37
Sensorineural hearing impairment, Vestibular dysfunction, Bilateral sensorineural hearing impairment OMIM:607821
Deafness, Autosomal Recessive 77
Bilateral sensorineural hearing impairment OMIM:613079
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, Autosomal Recessive 63
Congenital sensorineural hearing impairment OMIM:611451
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, Autosomal Recessive 101
Bilateral sensorineural hearing impairment OMIM:615837
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Increased circulating ACTH level OMIM:202355
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:212850
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment OMIM:608565
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Mental Retardation, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment OMIM:618915
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Intellectual Developmental Disorder, Autosomal Recessive 67
Sensorineural hearing impairment OMIM:618295
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Deafness-Oligodontia Syndrome
Congenital sensorineural hearing impairment OMIM:221740
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Mental Retardation, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Usher Syndrome, Type I
Sensorineural hearing impairment, Absent vestibular function OMIM:276900
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Low-frequency hearing loss, Sensorineural hearing impairment, Progressive hearing impairment OMIM:124900
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Ectodermal Dysplasia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:224800
Worster-Drought Syndrome
Abnormal cranial nerve morphology, Sensorineural hearing impairment ORPHA:3465
Split-Foot Malformation With Mesoaxial Polydactyly
Sensorineural hearing impairment OMIM:616890
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Sensorineural hearing impairment OMIM:300905
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials ORPHA:101007
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia
Hearing impairment, Sensorineural hearing impairment OMIM:310490
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Autosomal Recessive Spastic Paraplegia Type 24
Sensorineural hearing impairment ORPHA:101004
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment OMIM:208750
Nathalie Syndrome
Sensorineural hearing impairment ORPHA:2663
Non-Syndromic Genetic Deafness
Progressive sensorineural hearing impairment, High-frequency hearing impairment, Low-frequency se... ORPHA:87884
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Fetal Cytomegalovirus Syndrome
Sensorineural hearing impairment ORPHA:294
Palmoplantar Keratoderma-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2202
Pendred Syndrome
Cochlear malformation, Vestibular dysfunction, Congenital sensorineural hearing impairment OMIM:274600
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Sensorineural hearing impairmen... OMIM:616192
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment OMIM:238340
Spinocerebellar Ataxia 31
Cerebellar atrophy, Sensorineural hearing impairment OMIM:117210
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Cerebellar atrophy, Sensorineural hearing impairment, Brain atrophy OMIM:618741
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... OMIM:602588
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Sensorineural hearing impairment ORPHA:71289
Steel Syndrome
Sensorineural hearing impairment OMIM:615155
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment ORPHA:1490
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Deafness-Infertility Syndrome
Sensorineural hearing impairment ORPHA:94064
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Microcephaly 3, Primary, Autosomal Recessive
Sensorineural hearing impairment OMIM:604804
Cataract-Deafness-Hypogonadism Syndrome
Sensorineural hearing impairment ORPHA:1383
Usher Syndrome Type 1
Subcortical cerebral atrophy, Cerebral cortical atrophy, Sensorineural hearing impairment, Abnorm... ORPHA:231169
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration OMIM:172500
Retinitis Pigmentosa Inversa With Deafness
Sensorineural hearing impairment OMIM:268010
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Hearing impairment, Tinnitus OMIM:608224
Waardenburg Syndrome, Type 2D
Congenital sensorineural hearing impairment OMIM:608890
Combined Oxidative Phosphorylation Deficiency 36
Sensorineural hearing impairment OMIM:617950
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment OMIM:613076
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231183
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Sensorineural hearing impairment OMIM:603641
Waardenburg Syndrome, Type 2B
Sensorineural hearing impairment OMIM:600193
Fetal Iodine Syndrome
Sensorineural hearing impairment ORPHA:1910
Peroxisome Biogenesis Disorder 7B
Sensorineural hearing impairment OMIM:614873
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Gingival Fibromatosis-Progressive Deafness Syndrome
Sensorineural hearing impairment ORPHA:2027
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Cone-Rod Dystrophy And Hearing Loss 2
High-frequency sensorineural hearing impairment OMIM:618358
Cataract-Ataxia-Deafness Syndrome
Adult onset sensorineural hearing impairment, Sensorineural hearing impairment, Decreased nerve c... ORPHA:1368
Merrf
Sensorineural hearing impairment, Optic atrophy ORPHA:551
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy ORPHA:85297
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Sensorineural hearing impairment, Facial palsy OMIM:609283
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Usher Syndrome, Type Iiia
Sensorineural hearing impairment, Vestibular dysfunction OMIM:276902
Cardiomyopathy, Dilated, 1J
Sensorineural hearing impairment OMIM:605362
Deafness, Autosomal Recessive 108
Congenital sensorineural hearing impairment OMIM:617654
Lowe-Kohn-Cohen Syndrome
Sensorineural hearing impairment ORPHA:2408
Deafness, Autosomal Dominant 16
Adult onset sensorineural hearing impairment, Tinnitus OMIM:603964
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment OMIM:217400
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Enlarged vestibular aqueduct, Sensorineural hearing impairmen... ORPHA:705
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
High-frequency hearing impairment, Tinnitus, Bilateral sensorineural hearing impairment OMIM:605594
Deafness, Autosomal Recessive 103
Vestibular areflexia, Sensorineural hearing impairment, Vestibular dysfunction OMIM:616042
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Sensorineural hearing impairment ORPHA:2866
Mohr-Tranebjaerg Syndrome
Vestibular dysfunction, Global brain atrophy, Caudate atrophy, Absent brainstem auditory response... ORPHA:52368
Deafness, Neural, With Atypical Atopic Dermatitis
Sensorineural hearing impairment OMIM:221700
Middle Ear Neuroendocrine Tumor
Unilateral conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnorma... ORPHA:100084
Jervell And Lange-Nielsen Syndrome 2
Sensorineural hearing impairment, Congenital sensorineural hearing impairment OMIM:612347
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Sensorineural hearing impairment ORPHA:1144
Hyperostosis Corticalis Generalisata
Sensorineural hearing impairment, Facial palsy ORPHA:3416
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing impairment, Ante... OMIM:610706
Deafness-Vitiligo-Achalasia Syndrome
Sensorineural hearing impairment, EEG abnormality ORPHA:3239
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Branchiogenic Deafness Syndrome
Abnormality of the middle ear ossicles, Aplasia/Hypoplasia of the inner ear, Overfolded helix, Co... ORPHA:50815
Usher Syndrome, Type Ie
Vestibular areflexia, Congenital sensorineural hearing impairment OMIM:602097
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Sensorineural hearing impairment, Vestibular dysfunction OMIM:617992
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Cerebral cortical atrophy, Sensorineural hearing impairment, Amyotrophic lateral sclerosis OMIM:615911
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Sensorineural hearing impairment ORPHA:66633
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Sensorineural hearing impairment, Aganglionic megacolon ORPHA:2155
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Hearing impairment, Optic atrophy, Cochlear degeneration, Spinocerebellar atrophy ORPHA:95433
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, At... ORPHA:107
Renal Caliceal Diverticuli-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2838
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairm... OMIM:201050
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment OMIM:610738
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Sensorineural hearing impairment ORPHA:3225
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Sensorineural hearing impairment OMIM:264140
Björnstad Syndrome
Sensorineural hearing impairment ORPHA:123
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Athabaskan Brainstem Dysgenesis Syndrome
Sensorineural hearing impairment OMIM:601536
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Sensorineural hearing impairment OMIM:267300
Usher Syndrome, Type Iv
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:618144
Usher Syndrome, Type Ig
Sensorineural hearing impairment, Vestibular dysfunction OMIM:606943
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Sensorineural hearing impairment ORPHA:2698
Perrault Syndrome 3
Sensorineural hearing impairment, Congenital sensorineural hearing impairment OMIM:614129
Microcephaly-Deafness-Intellectual Disability Syndrome
Low-set ears, Cupped ear, Sensorineural hearing impairment, Protruding ear ORPHA:2533
Crouzon Disease
Conductive hearing impairment, Hearing impairment, Optic atrophy, Narrow internal auditory canal ORPHA:207
Branchiootic Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Morphological abnormality ... ORPHA:52429
Craniometaphyseal Dysplasia
Conductive hearing impairment, Abnormal cranial nerve morphology, Sensorineural hearing impairmen... ORPHA:1522
Perrault Syndrome 2
Sensorineural hearing impairment OMIM:614926
Stickler Syndrome, Type V
Sensorineural hearing impairment OMIM:614284
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Sensorineural hearing impairment OMIM:612370
Heimler Syndrome 1
Sensorineural hearing impairment OMIM:234580
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Morphological abnormality of the vestibule of the inner ear... OMIM:611584
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Conductive hearing impairment, Cupped ear, Stenosis of the external au... OMIM:113650
Coenzyme Q10 Deficiency, Primary, 6
Sensorineural hearing impairment OMIM:614650
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Synotia, Abnormal cranial nerve morphology, Narrow internal au... ORPHA:990
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Brain atrophy, Cerebellar atrophy, Abnormal auditory evoked potentials, Sensori... OMIM:619260
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Long-segment aganglionic megacolon, Abnormal autonomic nerv... OMIM:609136
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Ocular Albinism With Late-Onset Sensorineural Deafness
Sensorineural hearing impairment ORPHA:1000
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Sensorineural hearing impairment OMIM:221400
Hypophosphatemic Rickets, Autosomal Recessive, 1
Sensorineural hearing impairment OMIM:241520
Hypokalemic Tubulopathy And Deafness
Sensorineural hearing impairment OMIM:619406
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Diffuse cerebral atrophy ORPHA:3240
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Abnormality of the middle ear ossicles, Atresia of the external auditor... OMIM:609166
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Sensorineural hearing impairment OMIM:609057
Xq21 Microdeletion Syndrome
Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Bilateral sens... ORPHA:1435
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Saethre-Chotzen Syndrome
Abnormality of the antihelix, Narrow internal auditory canal, Conductive hearing impairment, Low-... ORPHA:794
Albinism-Deafness Syndrome
Sensorineural hearing impairment ORPHA:998
Isolated Split Hand-Split Foot Malformation
Sensorineural hearing impairment ORPHA:2440
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials, Cerebellar atrophy OMIM:193700
Charcot-Marie-Tooth Disease Type 1F
Cervical spinal cord atrophy, Absent brainstem auditory responses, Sensorineural hearing impairme... ORPHA:101085
Nephropathy, Deafness, And Hyperparathyroidism
Sensorineural hearing impairment OMIM:256120
Branchiootic Syndrome 3
Sensorineural hearing impairment OMIM:608389
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Atrophy of the spinal cord, Abnormal auto... ORPHA:99027
Distal Monosomy 10Q
Cochlear malformation, Abnormality of the outer ear, Morphological abnormality of the vestibule o... ORPHA:96148
Isotretinoin-Like Syndrome
Anotia, Aplasia/Hypoplasia of the inner ear, Atresia of the external auditory canal, Bilateral se... ORPHA:2306
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Abnormal cranial nerve morphology, Hearing impairment, Sensorineural hearing impairment, Aplasia ... ORPHA:90024
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Hearing impairment, Optic atrophy, Decreased nerv... ORPHA:206436
Trisomy 10P
Low voltage EEG, Macrotia, EEG with burst suppression, Low-set ears, Posteriorly rotated ears, Ab... ORPHA:171929
Cockayne Syndrome Type 1
Macrotia, Hearing impairment, Absent brainstem auditory responses, Abnormality of peripheral nerv... ORPHA:90321
Tick-Borne Encephalitis
Abnormal cranial nerve morphology, Vertigo, Abnormal autonomic nervous system physiology, Abnorma... ORPHA:297
Cerebrotendinous Xanthomatosis
Global brain atrophy, Abnormal motor evoked potentials, Cerebellar atrophy, Abnormal auditory evo... ORPHA:909
Cockayne Syndrome A
Cerebral atrophy, Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural he... OMIM:216400
Duane Retraction Syndrome
Narrow internal auditory canal, External ear malformation, Hearing impairment, Stenosis of the ex... ORPHA:233
Cockayne Syndrome B
Cerebral atrophy, Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural he... OMIM:133540
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Schinzel-Giedion Syndrome
Infantile sensorineural hearing impairment, Hypsarrhythmia, Aganglionic megacolon, Abnormality of... ORPHA:798
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Enlarged vestibular aqueduct ORPHA:18
Norrie Disease
Macrotia, Cerebral cortical atrophy, Protruding ear, Sensorineural hearing impairment, Abnormalit... ORPHA:649
Treacher-Collins Syndrome
Microtia, Conductive hearing impairment, Abnormality of the middle ear, Narrow internal auditory ... ORPHA:861
Floating-Harbor Syndrome
Low-set ears, Conductive hearing impairment, Cochlear malformation ORPHA:2044
Proteus Syndrome
Low-set ears, Narrow internal auditory canal, Macrotia ORPHA:744

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 Ildr1

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 Ildr1.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Angulin-2/ILDR1, a tricellular tight junction protein, does not affect water transport in the mouse large intestine. Scientific reports (June 2020) Ildr1tm1(KOMP)Wtsi PMC7316798
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Ildr1tm1(KOMP)Wtsi PMC6459510
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Ildr1tm1(KOMP)Wtsi PMC5638796
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Ildr1tm1(KOMP)Wtsi PMC5827107
Deficiency of angulin-2/ILDR1, a tricellular tight junction-associated membrane protein, causes deafness with cochlear hair cell degeneration in mice. PloS one (March 2015) Ildr1tm1(KOMP)Wtsi PMC4378975
ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells. Human molecular genetics (September 2014) Ildr1tm1(KOMP)Wtsi PMC4291242

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MGI Allele Allele Type Produced
Ildr1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ildr1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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