Gene Summary

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

IMPC Data Collections

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.

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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 Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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
Sensorineural hearing impairment, Abnormality of retinal pigmentation, Conductive hearing impairm... ORPHA:791
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy 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, Congenital sensorineural hearing impairment, Vestibular hypofunction OMIM:276904
Deafness, Autosomal Recessive 37
Vestibular dysfunction, Sensorineural hearing impairment, Congenital stationary night blindness, ... OMIM:607821
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal speech discrimina... OMIM:609129
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, Congenital sensorineural hearing impairment, Vestibular dysfunction OMIM:602083
Deafness, Autosomal Recessive 9
Absence of acoustic reflex, Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Usher Syndrome, Type I
Absent vestibular function, Rod-cone dystrophy, Sensorineural hearing impairment OMIM:276900
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Abnormality of the inner ear, Vertigo ORPHA:3230
Deafness, Autosomal Dominant 11
Vestibular dysfunction, Bilateral sensorineural hearing impairment, Vertigo OMIM:601317
Deafness, Autosomal Recessive 2
Vestibular dysfunction, Sensorineural hearing impairment, Vertigo OMIM:600060
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome
Rod-cone dystrophy, Infantile sensorineural hearing impairment ORPHA:3011
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Vestibular dysfunction OMIM:619500
Deafness, Autosomal Recessive 7
Vestibular dysfunction, Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Vestibular dysfunction OMIM:617605
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
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
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
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment, Abnormal audit... OMIM:616648
Abcd Syndrome
Abnormal auditory evoked potentials, Hypopigmentation of the fundus, Aganglionic megacolon, Heari... OMIM:600501
Worster-Drought Syndrome
Sensorineural hearing impairment, Abnormal cranial nerve morphology ORPHA:3465
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment, Retinal degeneration OMIM:238340
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy, Sensorineural hearing impairment OMIM:268010
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 35
Sensorineural hearing impairment OMIM:608565
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 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 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 Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
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 119
Sensorineural hearing impairment OMIM:619615
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Progressive hearing impairment, Sensorineural hearing impairment, Low-frequency hearing loss OMIM:124900
Liberfarb Syndrome
Retinal degeneration, Sensorineural hearing impairment, Retinal pigment epithelial mottling, Opti... OMIM:618889
Autosomal Recessive Spastic Paraplegia Type 27
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment ORPHA:101007
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormality of ... ORPHA:320401
Split-Foot Malformation With Mesoaxial Polydactyly
Sensorineural hearing impairment OMIM:616890
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Macular degeneration, Abnormal flash visual evoked pote... OMIM:618195
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Progressive hearing impairment, Retinal arteriolar constriction, Bilateral sensorineural hearing ... OMIM:124950
Non-Syndromic Genetic Deafness
High-frequency hearing impairment, Abnormal speech discrimination, Low-frequency sensorineural he... ORPHA:87884
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Abnormal amplitude of pattern reversal visual evoked potenti... OMIM:125250
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormality of visual evoked potentials, Ap... ORPHA:827
Peroxisome Biogenesis Disorder 7B
Retinal dystrophy, Sensorineural hearing impairment OMIM:614873
Usher Syndrome, Type Iv
Retinal degeneration, Sensorineural hearing impairment, Retinal atrophy, Progressive sensorineura... OMIM:618144
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Chorioretinal degeneration, P... OMIM:303110
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Decreased nerve con... OMIM:601455
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Abnormality of visual evoked potent... ORPHA:1215
Usher Syndrome, Type Iiia
Sensorineural hearing impairment, Rod-cone dystrophy, Vestibular dysfunction OMIM:276902
Usher Syndrome, Type 1M
Prelingual sensorineural hearing impairment, Vestibular dysfunction, Optic disc pallor, Drusen OMIM:618632
Canavan Disease
EEG abnormality, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Op... ORPHA:141
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy ORPHA:85297
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Retinal detachment, Sensorineural hearing impair... ORPHA:90654
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Deafness, Autosomal Dominant 50
Progressive hearing impairment, Sensorineural hearing impairment, Progressive sensorineural heari... OMIM:613074
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Vestibular dysfunction, Prelingual sensorineural ... ORPHA:52368
Usher Syndrome, Type Ie
Vestibular areflexia, Rod-cone dystrophy, Congenital sensorineural hearing impairment OMIM:602097
Stickler Syndrome, Type V
Sensorineural hearing impairment, Vitreoretinopathy, Retinal detachment OMIM:614284
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, EEG abnormality, Absent brainstem auditory responses OMIM:617519
Deafness, X-Linked 2
Conductive hearing impairment, Progressive sensorineural hearing impairment, Congenital sensorine... OMIM:304400
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Overfold... ORPHA:3216
Deafness, Autosomal Dominant 9
Tinnitus, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Postlingual sensorin... OMIM:601369
Diabetes And Deafness, Maternally Inherited
Vestibular dysfunction, Retinal degeneration, Sensorineural hearing impairment, Pigmentary retino... OMIM:520000
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Peroxisomal Acyl-Coa Oxidase Deficiency
EEG abnormality, Low-set ears, Abnormality of visual evoked potentials, Sensorineural hearing imp... ORPHA:2971
Usher Syndrome, Type Ig
Sensorineural hearing impairment, Rod-cone dystrophy, Vestibular dysfunction OMIM:606943
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Otosclerosis 7
Progressive hearing impairment, Childhood onset sensorineural hearing impairment, Conductive hear... OMIM:611572
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Tinnitus, Abnormality of visual evoked potentials, Mild neurosensory hearing impairment, Decrease... OMIM:601152
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Sensorineural hearing impairment, Geographic atrophy, Abnormal auditory evo... OMIM:619260
Krabbe Disease
EEG abnormality, Hearing impairment, Decreased nerve conduction velocity, Optic atrophy, Abnormal... OMIM:245200
Branchiootic Syndrome 1
Cupped ear, Low-set ears, Sensorineural hearing impairment, Microtia, Cochlear malformation, Mixe... OMIM:602588
Norrie Disease
Sensorineural hearing impairment, Retinal detachment, Retinal dysplasia, Retinal fold, Optic atrophy OMIM:310600
Heimler Syndrome 1
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 43
Tinnitus, Sensorineural hearing impairment OMIM:608394
Middle Ear Neuroendocrine Tumor
Tinnitus, Sensorineural hearing impairment, Unilateral conductive hearing impairment, Abnormality... ORPHA:100084
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Low-set ears, Rod-cone dystrophy, Attached earlobe, Patchy atrophy of the retinal pigment epithel... ORPHA:436245
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Sensorineural hearing impairment, Decreased nerve conduc... ORPHA:1933
Deafness, Autosomal Recessive 103
Vestibular areflexia, Vestibular dysfunction, Sensorineural hearing impairment OMIM:616042
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairm... OMIM:201050
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Sensorineural hearing impairment, Progressive sensorineural hearing impairment, Optic atrophy, He... OMIM:601338
Deafness, Autosomal Dominant 16
Tinnitus, Adult onset sensorineural hearing impairment OMIM:603964
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Optic atrophy, Hear... OMIM:256600
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor OMIM:617523
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Cochlear aplasia... OMIM:619274
Facioscapulohumeral Dystrophy
Sensorineural hearing impairment, Abnormal retinal vascular morphology ORPHA:269
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
Sensorineural hearing impairment, Abnormality of retinal pigmentation, Conductive hearing impairm... ORPHA:791
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Sensorineural hearing impairment, Macular degeneration OMIM:617236
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
EEG abnormality, Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Op... ORPHA:485421
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials OMIM:125310
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Optic nerve misrouting, Abnormality of visual evoked potentials, Depigme... ORPHA:352731
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Prolonge... ORPHA:206443
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Cleft earlobe, Optic disc pallor, Anterior creases of ea... ORPHA:314389
Ocular Albinism With Late-Onset Sensorineural Deafness
Sensorineural hearing impairment, Ocular albinism ORPHA:1000
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity, Retinal degeneration, Abnormal amplitude of flash visual evok... ORPHA:168491
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Low-set ears, Sensorineural hearing impairment, Optic disc pallor, Macular coloboma, Retinal dyst... ORPHA:423479
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy, Hearing impairment ORPHA:702
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Abnormality of the inner ear, Enlarg... ORPHA:705
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Bilateral sensorineural hearing impairment, Optic atroph... ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Bilateral sensorineural hearing impairment, Optic atroph... ORPHA:309263
Infantile Krabbe Disease
Cherry red spot of the macula, Abnormality of visual evoked potentials, Decreased nerve conductio... ORPHA:206436
Friedreich Ataxia
Decreased amplitude of sensory action potentials, Optic atrophy, Abnormality of visual evoked pot... OMIM:229300
Branchiootic Syndrome
Abnormality of the outer ear, Conductive hearing impairment, Sensorineural hearing impairment, At... ORPHA:52429
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, EEG abnormality, Optic atrophy, 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
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:96
Mpdu1-Cdg
Absence of acoustic reflex, Optic atrophy, Undetectable visual evoked potentials, Hypsarrhythmia ORPHA:79323
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Low-... ORPHA:2510
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... OMIM:231550
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Optic atrophy, Abnormality of peripheral nerve conductio... ORPHA:35069
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality of visual evok... ORPHA:79330
Cln5 Disease
EEG with generalized slow activity, Abnormality of visual evoked potentials, EEG with spike-wave ... ORPHA:228360
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Sensorineural hearing impairment, De... ORPHA:101085
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Optic atrophy OMIM:616875
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Bilateral sensorine... ORPHA:309271
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormality of visual evoked potentials, Decreased nerve conduc... OMIM:216400
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials, Ocular albinism, Hypoplasia of the fovea, Abnormality of... ORPHA:79431
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Aganglionic megacolon, Short-segment aganglionic megacolon, Abn... OMIM:609136
Warburg Micro Syndrome 2
Asymmetry of the ears, Macrotia, Undetectable visual evoked potentials, Optic atrophy OMIM:614225
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Cockayne Syndrome Type 1
Hearing impairment, Pigmentary retinopathy, Macrotia, Absent brainstem auditory responses, Optic ... ORPHA:90321
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Orthostatic h... ORPHA:99027
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic neuropathy, Abnormality of visual evoked po... ORPHA:909
White-Sutton Syndrome
Abnormality of the outer ear, Low-set ears, Sensorineural hearing impairment, Abnormality of visu... OMIM:616364
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormality of visual evoked potentials, Decreased nerve conduc... OMIM:133540
Trisomy 10P
Abnormality of the ear, Low-set ears, EEG with burst suppression, Abnormal auditory evoked potent... ORPHA:171929
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Abnormality of visual evoked potentials OMIM:614457
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Hearing impairment ORPHA:512
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression, Otitis media, Hearing impairment ORPHA:667
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Ocular albinism, Abnormality of the optic nerve 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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