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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, Abnormal retinal vascular morphology, Abnormality of retinal pigme... ORPHA:791
Retinitis Pigmentosa 68
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal atrophy 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
Vestibular hypofunction, Congenital sensorineural hearing impairment, Rod-cone dystrophy OMIM:276904
Deafness, Autosomal Recessive 12
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Rod-cone dystrophy OMIM:601386
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Abnormal auditory evoked potentials, Sensorineural hearing impair... OMIM:609129
Deafness, Autosomal Recessive 37
Abnormal vestibular function, Rod-cone dystrophy, Congenital stationary night blindness, Sensorin... OMIM:607821
Usher Syndrome, Type Iia
Congenital sensorineural hearing impairment, Rod-cone dystrophy OMIM:276901
Usher Syndrome, Type Iic
Congenital sensorineural hearing impairment, Rod-cone dystrophy OMIM:605472
Usher Syndrome, Type If
Abnormal vestibular function, Rod-cone dystrophy, Congenital sensorineural hearing impairment OMIM:602083
Deafness, Autosomal Recessive 9
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Deafness-Oligodontia Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear ORPHA:3230
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Deafness, Autosomal Recessive 2
Vertigo, Abnormal vestibular function, Sensorineural hearing impairment OMIM:600060
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Sensorineural hearing impairment OMIM:136600
Deafness, Autosomal Recessive 89
Vestibular hypofunction, Sensorineural hearing impairment OMIM:613916
Deafness, Autosomal Recessive 84B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614944
Deafness, Autosomal Recessive 18B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614945
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Dominant 49
Progressive hearing impairment, Sensorineural hearing impairment OMIM:608372
Deafness, X-Linked 4
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Deafness, Mid-Tone Neural
Progressive hearing impairment, Sensorineural hearing impairment OMIM:124700
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 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 15
Prelingual sensorineural hearing impairment, 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
Bilateral sensorineural hearing impairment, Sensorineural hearing impairment OMIM:610265
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment, Abnormal ear morphology OMIM:608565
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Abnormal auditory evoked potentials, Sensorineur... OMIM:616648
Deafness, Autosomal Dominant 4B
Abnormal vestibular function, Sensorineural hearing impairment OMIM:614614
Usher Syndrome, Type I
Absent vestibular function, Sensorineural hearing impairment, Rod-cone dystrophy OMIM:276900
Worster-Drought Syndrome
Abnormal cranial nerve morphology, Sensorineural hearing impairment ORPHA:3465
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment, Retinal degeneration OMIM:238340
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 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 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 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
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy, Sensorineural hearing impairment OMIM:268010
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Autosomal Recessive Spastic Paraplegia Type 27
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment ORPHA:101007
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity OMIM:601382
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Sensorineural hearing impairment, Ret... OMIM:617879
Usher Syndrome, Type Iv
Retinal atrophy, Hyperautofluorescent macular lesion, Retinal degeneration, Progressive sensorine... OMIM:618144
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Moderate hearing impairment, Conductive hearing impairment, Pro... ORPHA:87884
Stargardt Disease
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... ORPHA:827
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Bilateral sensorineural hearing impairment, Papilledema, Progressive hearing impairment, Retinal ... OMIM:124950
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal amplitude of pattern reversal visual evoked potentials, Optic atrophy, Abnormal auditory... OMIM:125250
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Choroideremia, Incomplete partition of the cochlea, Hearing impair... OMIM:303110
Peroxisome Biogenesis Disorder 7B
Sensorineural hearing impairment, Retinal dystrophy OMIM:614873
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Abnormal retinal nerve fiber lay... ORPHA:1215
Usher Syndrome, Type Iiia
Abnormal vestibular function, Sensorineural hearing impairment, Rod-cone dystrophy OMIM:276902
Usher Syndrome, Type 1M
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Optic disc pallor, Drusen OMIM:618632
Canavan Disease
EEG abnormality, Hearing impairment, Abnormality of retinal pigmentation, Abnormality of visual e... ORPHA:141
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Sensorineural hearing impairment ORPHA:85297
Optic Atrophy 5
Abnormality of pattern visual evoked potentials, Optic atrophy, Optic disc pallor OMIM:610708
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Tinnitus, Sensorineural hearing impairment OMIM:618915
Stickler Syndrome Type 2
Retinopathy, Retinal detachment, Abnormal vitreous humor morphology, Sensorineural hearing impair... ORPHA:90654
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal cochlea morphology, Prelingual sensorineural hearin... ORPHA:52368
Deafness, Autosomal Dominant 50
Progressive hearing impairment, Tinnitus, Sensorineural hearing impairment, Progressive sensorine... OMIM:613074
Abcd Syndrome
Hypopigmentation of the fundus, Aganglionic megacolon, Hearing impairment, Total intestinal agang... OMIM:600501
Usher Syndrome, Type Ie
Vestibular areflexia, Congenital sensorineural hearing impairment, Rod-cone dystrophy OMIM:602097
Deafness, X-Linked 2
Conductive hearing impairment, Stapes ankylosis, Mixed hearing impairment, Progressive sensorineu... OMIM:304400
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Abnormal flash visual evoked potentials, Macular degeneration, Optic disc ... OMIM:618195
Deafness, Autosomal Dominant 9
Tinnitus, Abnormality of the vestibulocochlear nerve, Vertigo, Cochlear degeneration, Postlingual... OMIM:601369
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Hearing impairment, Abnormal auditory evoked potentials, Sen... OMIM:601455
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
EEG abnormality, Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses 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
Pigmentary retinopathy, Retinal degeneration, Vertigo, Abnormal vestibular function, Sensorineura... OMIM:520000
Peroxisomal Acyl-Coa Oxidase Deficiency
Low-set ears, EEG abnormality, Sensorineural hearing impairment, Abnormality of visual evoked pot... ORPHA:2971
Stickler Syndrome, Type V
Vitreoretinopathy, Retinal detachment, Sensorineural hearing impairment OMIM:614284
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Optic disc pallor, Retinal degeneration, Macular coloboma, Abnormal auditory evo... OMIM:619260
Usher Syndrome, Type Ig
Abnormal vestibular function, Rod-cone dystrophy, Sensorineural hearing impairment OMIM:606943
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Tinnitus, Optic disc pallor, Decreased motor nerve conduction velocity, Mild neurosensory hearing... OMIM:601152
Otosclerosis 7
Progressive hearing impairment, Conductive hearing impairment, Childhood onset sensorineural hear... OMIM:611572
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Hearing impairment,... OMIM:601596
Branchiootic Syndrome 1
Low-set ears, Cochlear malformation, Mixed hearing impairment, Cupped ear, Sensorineural hearing ... OMIM:602588
Krabbe Disease
Abnormal flash visual evoked potentials, EEG abnormality, Decreased nerve conduction velocity, He... OMIM:245200
Heimler Syndrome 1
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Macular dystrophy OMIM:234580
Deafness, Autosomal Dominant 64
Tinnitus, Sensorineural hearing impairment OMIM:614152
Deafness, Autosomal Dominant 67
Tinnitus, Sensorineural hearing impairment OMIM:616340
Deafness, Autosomal Dominant 36
Tinnitus, Sensorineural hearing impairment OMIM:606705
Deafness, Autosomal Dominant 33
Tinnitus, Sensorineural hearing impairment OMIM:614211
Deafness, Autosomal Dominant 72
Tinnitus, Sensorineural hearing impairment OMIM:617606
Deafness, Y-Linked 1
Tinnitus, Sensorineural hearing impairment OMIM:400043
Deafness, Autosomal Dominant 82
Tinnitus, Sensorineural hearing impairment OMIM:619804
Deafness, Autosomal Dominant 43
Tinnitus, Sensorineural hearing impairment OMIM:608394
Middle Ear Neuroendocrine Tumor
Tinnitus, Abnormality of the auditory canal, Facial palsy, Sensorineural hearing impairment, Unil... ORPHA:100084
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormality of visual evok... ORPHA:1933
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Low-set ears, Attached earlobe, Patchy atrophy of the retinal pigment epithelium, Undetectable vi... ORPHA:436245
Deafness, Autosomal Recessive 103
Vestibular areflexia, Abnormal vestibular function, Sensorineural hearing impairment OMIM:616042
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Undetectable visual evoked potentials, Hearing impairment, Progressive sensorineural hearing impa... OMIM:601338
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Hear... OMIM:256600
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Hypsarrhythmia, EEG abnormality, Decreased nerve conduction velocity, Optic disc pallor, Abnormal... ORPHA:485421
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Bilateral sensorineural hearing impairment, Optic disc pallor, Hearing impairment, Bone spicule p... OMIM:268315
Deafness, Autosomal Dominant 80
Cochlear aplasia, Morphological abnormality of the semicircular canal, Dilated vestibule of the i... 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
Retinitis Pigmentosa
Conductive hearing impairment, Abnormal retinal vascular morphology, Abnormality of retinal pigme... ORPHA:791
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Sensorineural hearing impairment, Retinal atrophy OMIM:617236
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... ORPHA:206443
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Low-set ears, Aplasia/Hypoplasia of the optic nerve, Optic disc pallor, Undetectable visual evoke... ORPHA:423479
Oculocutaneous Albinism Type 1
Depigmented fundus, Hypoplasia of the fovea, Optic nerve misrouting, Abnormality of visual evoked... ORPHA:352731
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Pelizaeus-Merzbacher Disease
Optic atrophy, Abnormality of visual evoked potentials, Hearing impairment ORPHA:702
Xq12-Q13.3 Duplication Syndrome
Hypsarrhythmia, Optic disc pallor, Abnormality of visual evoked potentials, Anterior creases of e... ORPHA:314389
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, EEG with generalized slow activity grade 4, EEG with spike-wav... ORPHA:168491
Developmental And Epileptic Encephalopathy 3
EEG with burst suppression, Abnormality of visual evoked potentials OMIM:609304
Metachromatic Leukodystrophy, Late Infantile Form
Bilateral sensorineural hearing impairment, Optic atrophy, Decreased nerve conduction velocity, A... ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Bilateral sensorineural hearing impairment, Optic atrophy, Decreased nerve conduction velocity, A... ORPHA:309263
Infantile Krabbe Disease
Decreased nerve conduction velocity, Hearing impairment, Cherry red spot of the macula, Abnormali... ORPHA:206436
Friedreich Ataxia
Decreased sensory nerve conduction velocity, Optic atrophy, Decreased amplitude of sensory action... OMIM:229300
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
EEG abnormality, Optic atrophy, Abnormality of visual evoked potentials, Abnormal pinna morphology ORPHA:480898
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
Optic atrophy, Abnormality of visual evoked potentials ORPHA:508093
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Micro Syndrome
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Macrotia, Abnormality of ... ORPHA:2510
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials OMIM:125310
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal autonomic nervous system phys... ORPHA:35069
Mogs-Cdg
Optic atrophy, Abnormality of visual evoked potentials, Sensorineural hearing impairment, Absent ... ORPHA:79330
Mpdu1-Cdg
Optic atrophy, Hypsarrhythmia, Absence of acoustic reflex, Undetectable visual evoked potentials ORPHA:79323
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ... ORPHA:101085
Cln5 Disease
EEG with spike-wave complexes, EEG with focal spikes, EEG with generalized slow activity, Multifo... ORPHA:228360
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Abnormality... OMIM:231550
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Abnormality of visual evoked potentials OMIM:616875
Metachromatic Leukodystrophy, Adult Form
Bilateral sensorineural hearing impairment, Decreased nerve conduction velocity, Orthostatic hypo... ORPHA:309271
Retinitis Pigmentosa 68
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal atrophy OMIM:615725
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Short-segment aganglionic megacolon, Absent brainstem audit... OMIM:609136
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Cockayne Syndrome A
Retinal atrophy, Abnormal pinna morphology, Retinal pigment epithelial mottling, Pigmentary retin... OMIM:216400
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Ocular albinism, Abnormality of visual evoked potentials, Abnormal optic... ORPHA:79431
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Pigmentary retinopathy, Hearing impairment, Abnormality of p... ORPHA:90321
Cerebrotendinous Xanthomatosis
Abnormal retinal vascular morphology, Optic neuropathy, Abnormal motor evoked potentials, Optic d... ORPHA:909
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Abnormal auditory ev... ORPHA:99027
White-Sutton Syndrome
Low-set ears, Bilateral sensorineural hearing impairment, Posteriorly rotated ears, Optic nerve h... OMIM:616364
Cockayne Syndrome B
Abnormal pinna morphology, Pigmentary retinopathy, Decreased nerve conduction velocity, Abnormal ... OMIM:133540
Trisomy 10P
Low-set ears, Abnormality of the ear, Low voltage EEG, EEG with focal spikes, Posteriorly rotated... 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
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Otitis media, Abnormality of visual evoked potentials, Hearing impairment ORPHA:667
Hermansky-Pudlak Syndrome
Abnormal optic nerve morphology, Ocular albinism, Abnormality of visual evoked potentials ORPHA:79430
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Abnormality of visual evoked potentials 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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