Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
potassium voltage-gated channel, subfamily Q, member 4
Synonyms:
N/A

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 Kcnq4 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 Kcnq4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101

The table below shows human diseases predicted to be associated to Kcnq4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Deafness, Autosomal Dominant 11
Vertigo, Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:601317
Deafness, Autosomal Recessive 2
Sensorineural hearing impairment, Abnormal vestibular function, Vertigo OMIM:600060
Deafness, Autosomal Recessive 25
Hearing impairment, Abnormal vestibular function, Progressive sensorineural hearing impairment OMIM:613285
Deafness, Autosomal Recessive 46
Profound sensorineural hearing impairment, Absent vestibular function OMIM:609647
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment, Absent vestibular function OMIM:607084
Deafness, Autosomal Recessive 89
Sensorineural hearing impairment, Vestibular hypofunction OMIM:613916
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 18B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614945
Deafness, Autosomal Recessive 45
Prelingual sensorineural hearing impairment, Abnormal vestibular function OMIM:612433
Deafness, Autosomal Recessive 48
Profound sensorineural hearing impairment, Abnormal vestibular function OMIM:609439
Deafness, Autosomal Dominant 79
Abnormal vestibular function, Progressive sensorineural hearing impairment OMIM:619086
Deafness, Autosomal Dominant 70
Abnormal vestibular function, Progressive sensorineural hearing impairment OMIM:616968
Deafness, Autosomal Recessive 94
Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:618434
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment, Abnormal vestibular function OMIM:619174
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618094
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618410
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Abnormal vestibular function OMIM:619500
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment, Abnormal vestibular function OMIM:616357
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment, Abnormal vestibular function OMIM:600974
Deafness, Autosomal Dominant 56
Sensorineural hearing impairment, Abnormal vestibular function OMIM:615629
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Abnormal vestibular function OMIM:220290
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment, Abnormal vestibular function OMIM:616969
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618481
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Abnormal vestibular function OMIM:617605
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment, Abnormal vestibular function OMIM:609965
Deafness, Autosomal Dominant 74
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618140
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment, Abnormal vestibular function OMIM:605583
Auditory Neuropathy, Autosomal Dominant 2
Sensorineural hearing impairment, Abnormal speech discrimination OMIM:620384
Deafness, Autosomal Recessive 30
Progressive hearing impairment, Progressive sensorineural hearing impairment OMIM:607101
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency 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 Dominant 6
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Dominant 20
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Abnormal vestibular function, Bilateral sensorineural hearing i... OMIM:610265
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Dominant 22
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Abnormal vestibula... OMIM:601869
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618422
Deafness, Autosomal Recessive 63
Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:611451
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 Dominant 5
Progressive sensorineural hearing impairment OMIM:600994
Deafness, Autosomal Recessive 62
Prelingual sensorineural hearing impairment OMIM:610143
Deafness, Autosomal Recessive 49
Prelingual sensorineural hearing impairment OMIM:610153
Deafness, Autosomal Recessive 44
Prelingual sensorineural hearing impairment OMIM:610154
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 76
Progressive sensorineural hearing impairment OMIM:615540
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-Oligodontia Syndrome
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear ORPHA:3230
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, Autosomal Dominant 83
Bilateral sensorineural hearing impairment OMIM:619808
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Usher Syndrome, Type Ic
Vestibular hypofunction, Congenital sensorineural hearing impairment OMIM:276904
Deafness, Autosomal Recessive 12
Prelingual sensorineural hearing impairment, Abnormal vestibular function OMIM:601386
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
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 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
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 42
Sensorineural hearing impairment OMIM:609646
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
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, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Recessive 120
Sensorineural hearing impairment OMIM:620238
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
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
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618787
Deafness, Autosomal Dominant 4B
Sensorineural hearing impairment, Abnormal vestibular function OMIM:614614
Deafness, Autosomal Recessive 101
Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:615837
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment, Abnormal ear morphology OMIM:608565
Usher Syndrome, Type Iia
Congenital sensorineural hearing impairment OMIM:276901
Usher Syndrome, Type Iic
Congenital sensorineural hearing impairment OMIM:605472
Deafness, Autosomal Recessive 57
Hearing impairment, Sensorineural hearing impairment, Abnormal vestibular function OMIM:618003
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Dominant 78
Profound sensorineural hearing impairment OMIM:619081
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Usher Syndrome, Type If
Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:602083
Fibromatosis, Gingival, With Progressive Deafness
Progressive sensorineural hearing impairment OMIM:135550
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:212850
Ataxia-Deafness-Retardation Syndrome
Progressive sensorineural hearing impairment OMIM:208850
Deafness, Autosomal Recessive 37
Sensorineural hearing impairment, Abnormal vestibular function OMIM:607821
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Sensorineural hearing impairment OMIM:136600
Deafness, Autosomal Recessive 121
Sensorineural hearing impairment, Vestibular hypofunction OMIM:620551
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Ectodermal Dysplasia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:224800
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor... ORPHA:87884
Worster-Drought Syndrome
Abnormal cranial nerve morphology, Sensorineural hearing impairment ORPHA:3465
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Progressive hearing impairment, Tinnitus, Progressive sensorine... OMIM:613074
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials ORPHA:101007
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment OMIM:208750
Nathalie Syndrome
Sensorineural hearing impairment ORPHA:2663
Deafness, Autosomal Recessive 77
Tinnitus, Bilateral sensorineural hearing impairment, Abnormal vestibular function OMIM:613079
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Palmoplantar Keratoderma-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2202
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
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 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 16
Tinnitus, Adult onset sensorineural hearing impairment OMIM:603964
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment OMIM:238340
Deafness, Autosomal Recessive 103
Sensorineural hearing impairment, Abnormal vestibular function, Vestibular areflexia OMIM:616042
Deafness-Infertility Syndrome
Sensorineural hearing impairment ORPHA:94064
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment OMIM:608653
Deafness, Autosomal Dominant 41
Tinnitus, Progressive sensorineural hearing impairment OMIM:608224
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Otosclerosis 7
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... OMIM:611572
Deafness, Autosomal Dominant 23
Sensorineural hearing impairment, Conductive hearing impairment OMIM:605192
Deafness, Autosomal Recessive 108
Congenital sensorineural hearing impairment OMIM:617654
Deafness, Autosomal Dominant 58
Sensorineural hearing impairment, Tinnitus OMIM:615654
Conductive Deafness-Malformed External Ear Syndrome
Sensorineural hearing impairment, Abnormal pinna morphology, Microtia, Low-set ears, Stenosis of ... ORPHA:3216
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Tinnitus, Bilateral sensorineural hearing impairment, High-frequency hearing impairment OMIM:605594
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Deafness And Myopia
Sensorineural hearing impairment OMIM:221200
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Hematuria, Benign Familial, 2
Sensorineural hearing impairment OMIM:620320
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Sensorineural hearing impairment ORPHA:85297
Usher Syndrome, Type Iiia
Sensorineural hearing impairment, Abnormal vestibular function OMIM:276902
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Gingival Fibromatosis-Progressive Deafness Syndrome
Sensorineural hearing impairment ORPHA:2027
Otosclerosis 11
Otosclerosis, Sensorineural hearing impairment, Absence of acoustic reflex, Conductive hearing im... OMIM:620576
Cataract-Ataxia-Deafness Syndrome
Sensorineural hearing impairment, Decreased nerve conduction velocity, Adult onset sensorineural ... ORPHA:1368
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment OMIM:217400
Deafness, Neural, With Atypical Atopic Dermatitis
Sensorineural hearing impairment OMIM:221700
Usher Syndrome, Type Ie
Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Deafness-Vitiligo-Achalasia Syndrome
Sensorineural hearing impairment, EEG abnormality ORPHA:3239
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Facial palsy, Absent brainstem auditory responses OMIM:617519
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial... OMIM:601596
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Middle Ear Neuroendocrine Tumor
Unilateral conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnorma... ORPHA:100084
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Sensorineural hearing impairment, Abnormal vestibular function OMIM:617992
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Sensorineural hearing impairment ORPHA:3225
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Sensorineural hearing impairment, Aganglionic megacolon ORPHA:2155
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Sensorineural hearing impairment OMIM:267300
Usher Syndrome, Type Ig
Sensorineural hearing impairment, Abnormal vestibular function OMIM:606943
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Sensorineural hearing impairment, Short-segment aganglionic megacolon OMIM:619465
Björnstad Syndrome
Sensorineural hearing impairment ORPHA:123
Perrault Syndrome 2
Sensorineural hearing impairment OMIM:614926
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Sensorineural hearing impairment, Brain atrophy, Cerebellar atrophy, Abnormal a... OMIM:619260
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diffuse cerebral atrophy, Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ... ORPHA:206443
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time OMIM:616881
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic nerve hypoplasia, Ab... ORPHA:101085
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Adult-Onset Autosomal Dominant Leukodystrophy
Atrophy/Degeneration affecting the cerebrum, Orthostatic hypotension, Sensorineural hearing impai... ORPHA:99027
Arthrogryposis, Distal, Type 2A
Hearing impairment, Cerebellar atrophy, Abnormal auditory evoked potentials OMIM:193700
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral atrophy, Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment agang... OMIM:609136
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Abnormality of visual evoked potentials, Absent ... ORPHA:79330
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Hearing impairment, Macrotia, Abnormality of ... ORPHA:90321
Cerebrotendinous Xanthomatosis
Optic atrophy, Global brain atrophy, Decreased nerve conduction velocity, Axonal degeneration, Ab... ORPHA:909
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Low-set ears, Abnormal auditory evoked potentials, Macrot... ORPHA:171929
Cockayne Syndrome A
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Sensorineural hearing impai... OMIM:216400
Cockayne Syndrome B
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Sensorineural hearing impai... OMIM:133540
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973

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 Kcnq4

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 Kcnq4.

No publications found that use IMPC mice or data for Kcnq4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Kcnq4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Kcnq4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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