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Gene: Slc7a14 MGI:3040688

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Gene Summary

Name:
solute carrier family 7 (cationic amino acid transporter, y+ system), member 14
Synonyms:
N/A

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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.

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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Human diseases caused by Slc7a14 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 Slc7a14 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormality of re... ORPHA:791
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:615725

The table below shows human diseases predicted to be associated to Slc7a14 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Usher Syndrome, Type Ic
Rod-cone dystrophy, Vestibular hypofunction, Congenital sensorineural hearing impairment OMIM:276904
Deafness, Autosomal Recessive 12
Rod-cone dystrophy, Prelingual sensorineural hearing impairment, Abnormal vestibular function OMIM:601386
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... OMIM:609129
Deafness, Autosomal Recessive 37
Congenital stationary night blindness, Rod-cone dystrophy, Sensorineural hearing impairment, Abno... OMIM:607821
Usher Syndrome, Type Iia
Rod-cone dystrophy, Congenital sensorineural hearing impairment OMIM:276901
Usher Syndrome, Type Iic
Rod-cone dystrophy, Congenital sensorineural hearing impairment OMIM:605472
Usher Syndrome, Type If
Rod-cone dystrophy, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:602083
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Deafness-Oligodontia Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo ORPHA:3230
Deafness, Autosomal Recessive 2
Vertigo, Sensorineural hearing impairment, Abnormal vestibular function OMIM:600060
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Deafness, Autosomal Recessive 84B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614944
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618094
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Abnormal vestibular function OMIM:619500
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 71
Sensorineural hearing impairment, Abnormal vestibular function OMIM:617605
Deafness, Autosomal Dominant 74
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618140
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 18B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614945
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Dominant 6
Low-frequency sensorineural hearing impairment, Progressive 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 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 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Deafness, Autosomal Recessive 35
Abnormal ear morphology, Sensorineural hearing impairment OMIM:608565
Deafness, Autosomal Dominant 4B
Sensorineural hearing impairment, Abnormal vestibular function OMIM:614614
Optic Atrophy 8
Sensorineural hearing impairment, Abnormality of pattern visual evoked potentials, Optic atrophy,... OMIM:616648
Usher Syndrome, Type I
Rod-cone dystrophy, Sensorineural hearing impairment, Absent vestibular function OMIM:276900
Worster-Drought Syndrome
Abnormal cranial nerve morphology, Sensorineural hearing impairment ORPHA:3465
Hyperleucine-Isoleucinemia
Retinal degeneration, Sensorineural hearing impairment OMIM:238340
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy, Sensorineural hearing impairment OMIM:268010
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 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 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 42
Sensorineural hearing impairment OMIM:609646
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
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 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 Dominant 53
Sensorineural hearing impairment OMIM:609965
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 53
Sensorineural hearing impairment OMIM:609706
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 84
Sensorineural hearing impairment OMIM:619810
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
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, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials ORPHA:101007
Liberfarb Syndrome
Sensorineural hearing impairment, Retinal degeneration, Retinal pigment epithelial mottling, Bone... OMIM:618889
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:320401
Wolfram-Like Syndrome, Autosomal Dominant
Sensorineural hearing impairment, Progressive hearing impairment, Optic atrophy, Optic disc pallo... OMIM:614296
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peri... OMIM:617879
Usher Syndrome, Type Iv
Sensorineural hearing impairment, Hyperautofluorescent macular lesion, Retinal atrophy, Retinal d... OMIM:618144
Stargardt Disease
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... ORPHA:827
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Papilledema, Progressive hearing impairment, Bilateral sensorine... OMIM:124950
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing impairment,... OMIM:125250
Peroxisome Biogenesis Disorder 7B
Retinal dystrophy, Sensorineural hearing impairment OMIM:614873
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Choroideremia, Progressive se... OMIM:303110
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine... ORPHA:87884
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Abnormality of visual e... OMIM:601455
Usher Syndrome, Type Iiia
Rod-cone dystrophy, Sensorineural hearing impairment, Abnormal vestibular function OMIM:276902
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer ... ORPHA:1215
Usher Syndrome, Type 1M
Optic disc pallor, Prelingual sensorineural hearing impairment, Drusen, Abnormal vestibular function OMIM:618632
Canavan Disease
Optic atrophy, EEG abnormality, Abnormality of retinal pigmentation, Abnormality of visual evoked... ORPHA:141
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy ORPHA:85297
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus OMIM:618915
Stickler Syndrome Type 2
Retinal detachment, Abnormal vitreous humor morphology, Retinopathy, Sensorineural hearing impair... ORPHA:90654
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Sensor... ORPHA:52368
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Hypop... OMIM:600501
Usher Syndrome, Type Ie
Rod-cone dystrophy, Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Deafness, X-Linked 2
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... OMIM:304400
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Sensorineural hearing impairment, Unilateral vestibular schwannoma OMIM:603641
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... OMIM:601369
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Abnormal flash visual evoked potentials, Macular degeneration, Bone spicul... OMIM:618195
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, Retinal degeneration, Abnormal vestibular function, Vertigo, Pi... OMIM:520000
Peroxisomal Acyl-Coa Oxidase Deficiency
Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Low-set ears, Abnormality of vi... ORPHA:2971
Stickler Syndrome, Type V
Retinal detachment, Sensorineural hearing impairment, Vitreoretinopathy OMIM:614284
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Retinal degeneration, Macu... OMIM:619260
Usher Syndrome, Type Ig
Rod-cone dystrophy, Sensorineural hearing impairment, Abnormal vestibular function OMIM:606943
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Otosclerosis 7
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Mild neurosensory hearing impairment, Optic atrophy, Decreased motor nerve conduction velocity, T... OMIM:601152
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Congenital sensorineural hearing impairment, Abnormal vestibular function OMIM:619553
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Branchiootic Syndrome 1
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... OMIM:602588
Krabbe Disease
EEG abnormality, Optic atrophy, Abnormal flash visual evoked potentials, Decreased nerve conducti... OMIM:245200
Heimler Syndrome 1
Sensorineural hearing impairment, Macular dystrophy OMIM:234580
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
Middle Ear Neuroendocrine Tumor
Sensorineural hearing impairment, Abnormality of the auditory canal, Unilateral conductive hearin... ORPHA:100084
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Sensorineural hearing impairment, Decreased nerve conduction velocity, Abnormality of visual evok... ORPHA:1933
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Rod-cone dystrophy, Macrotia, Undetectable visual evoked potentials, Patchy atrophy of the retina... ORPHA:436245
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia OMIM:616042
Acrocraniofacial Dysostosis
Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,... OMIM:201050
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Undetectable visual evoked potentials, Sensorineural hearing impairment, Optic atrophy, Progressi... OMIM:601338
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Hearing impairment,... OMIM:256600
Deafness, Autosomal Dominant 80
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... OMIM:619274
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rod-cone dystrophy, Sensorineural hearing impairment, Optic atrophy, Bone spicule pigmentation of... OMIM:268315
Retinitis Pigmentosa
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormality of re... ORPHA:791
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, EEG abnormality, Hypsarrhythmia, Decreased nerve conduction velocity, Optic disc p... ORPHA:485421
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Macular degeneration, Sensorineural hearing impairment OMIM:617236
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Sensorineural hearing impairment, Undetectable visual evoked potentials, Retinal dystrophy, Low-s... ORPHA:423479
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Oculocutaneous Albinism Type 1
Depigmented fundus, Optic nerve misrouting, Hypoplasia of the fovea, Abnormal morphology of the c... ORPHA:352731
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Hearing impairment, Optic atrophy ORPHA:702
Xq12-Q13.3 Duplication Syndrome
Cleft earlobe, Hypsarrhythmia, Anterior creases of earlobe, Optic disc pallor, Abnormality of vis... ORPHA:314389
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity grade 4, EEG with series of focal spikes, Retinal degeneration... ORPHA:168491
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy, Bila... ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Optic atrophy, Bila... ORPHA:309263
Infantile Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potential... ORPHA:206436
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Decreased amplitude of sensory action potentials, Ab... OMIM:229300
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Mepan Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:508093
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormal pinna morphology, Abnormality of visual evoked potentials, Optic atrophy, EEG abnormality ORPHA:480898
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials OMIM:125310
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Micro Syndrome
Macrotia, Optic atrophy, Abnormality of retinal pigmentation, Low-set, posteriorly rotated ears, ... ORPHA:2510
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality of visual evok... ORPHA:79330
Mpdu1-Cdg
Hypsarrhythmia, Absence of acoustic reflex, Undetectable visual evoked potentials, Optic atrophy ORPHA:79323
Infantile Neuroaxonal Dystrophy
Abnormal autonomic nervous system physiology, Abnormality of peripheral nerve conduction, Abnorma... ORPHA:35069
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... ORPHA:101085
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Abnormality of visual evok... OMIM:231550
Cln5 Disease
EEG with focal spikes, Multifocal epileptiform discharges, EEG with generalized slow activity, Ab... ORPHA:228360
Metachromatic Leukodystrophy, Adult Form
Orthostatic hypotension due to autonomic dysfunction, Optic atrophy, Decreased nerve conduction v... ORPHA:309271
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:615725
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Optic atrophy OMIM:616875
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Oculocutaneous Albinism Type 1A
Abnormal optic nerve morphology, Hypoplasia of the fovea, Abnormality of visual evoked potentials... ORPHA:79431
Cockayne Syndrome A
Sensorineural hearing impairment, Optic atrophy, Retinal atrophy, Abnormal auditory evoked potent... OMIM:216400
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... OMIM:609136
Cockayne Syndrome Type 1
Pigmentary retinopathy, Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Abse... ORPHA:90321
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potential... ORPHA:909
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:99027
White-Sutton Syndrome
Rod-cone dystrophy, Sensorineural hearing impairment, Optic nerve hypoplasia, Abnormality of the ... OMIM:616364
Cockayne Syndrome B
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... OMIM:133540
Trisomy 10P
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... ORPHA:171929
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials OMIM:614457
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Hearing impairment ORPHA:512
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Abnormality of visual evoked potentials, Hearing impairment, Otitis media ORPHA:667
Hermansky-Pudlak Syndrome
Abnormal optic nerve morphology, Abnormality of visual evoked potentials, Ocular albinism ORPHA:79430
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Facial palsy ORPHA:258
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials OMIM:203700

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 Slc7a14

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 Slc7a14.

No publications found that use IMPC mice or data for Slc7a14.

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MGI Allele Allele Type Produced
Slc7a14tm45528(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc7a14em1(IMPC)H Indel Mice

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