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Gene: Slc12a7 MGI:1342283

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Gene Summary

Name:
solute carrier family 12, member 7
Synonyms:
Kcc4

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Slc12a7em1(IMPC)Bay HOM   Early adult 0.00

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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.

Eye Morphology

VIP of left eye

16 Images

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Eye Morphology

VIP of right fundus

16 Images

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Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of left fundus

16 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

6 Images

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Human diseases caused by Slc12a7 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slc12a7 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Auditory Neuropathy, Autosomal Dominant 3
Hearing impairment, Abnormal speech discrimination OMIM:619832
Deafness, Autosomal Recessive 84A
Abnormal vestibular function, Hearing impairment OMIM:613391
Deafness, Autosomal Recessive 1B
Abnormal vestibular function, Hearing impairment OMIM:612645
Deafness, Autosomal Dominant 65
Abnormal vestibular function, Progressive hearing impairment OMIM:616044
Deafness, Autosomal Recessive 25
Abnormal vestibular function, Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
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 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Auditory Neuropathy, Autosomal Dominant 2
Abnormal speech discrimination, Sensorineural hearing impairment OMIM:620384
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 117
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Recessive 113
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618410
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Dominant 40
Abnormal vestibular function, Sensorineural hearing impairment OMIM:616357
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 66
Abnormal vestibular function, Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Recessive 99
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Dominant 53
Abnormal vestibular function, Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Dominant 25
Abnormal vestibular function, Sensorineural hearing impairment OMIM:605583
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 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
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 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
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Nephrolithiasis, Renal tubular acidosis, Sensorineural hearing impairment OMIM:267300
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Failure to thrive, Distal renal tubular acidosis, Metabolic acidosis, Hypercalc... OMIM:602722
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive sensorineural hearing impairment, Progres... OMIM:613074
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Chronic kidney disease, Increased circulating lactate concentration, Failure to thrive, Cerebral ... ORPHA:324525
Say Syndrome
Cystic renal dysplasia, Macrotia, Proximal renal tubular acidosis OMIM:181180
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Low-set ears, Nephropathy, Aminoaciduria, Nephrocalcinosis, Failure to thrive, Glycosuria, Renal ... OMIM:613404
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Congenital lactic acidosis, Increased circulating lactate concentration, Failure to thrive, Lacti... OMIM:615824
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Hearing impairment, Glycosuria, Stage 5 chronic kidney disease, Sensorineural hear... OMIM:268315
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Low-set ears, Nephropathy, Aminoaciduria, Nephrocalcinosis, Hearing impairment, Failure to thrive... OMIM:208085
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Combined Oxidative Phosphorylation Deficiency 11
Cerebral cortical atrophy, Renal hypoplasia, Increased circulating lactate concentration, Hearing... OMIM:614922
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Renal tubular acidosis, Metabolic acidosis ORPHA:79155
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Bicarbonate-wasting renal tubular acidosis, Metabolic acidosis, Hyperchloremic acidosis, Proximal... OMIM:604278
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena... OMIM:146255
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Optic atrophy, Failure to thrive, Glycosuria, Lactic acidosis, Hyperphosphaturia, ... ORPHA:436271
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Optic atrophy, Increased circulating lactate concentration, Failure to thrive, Gly... OMIM:220110
Gracile Syndrome
Renal Fanconi syndrome, Lactic acidosis, Hearing impairment ORPHA:53693
Vici Syndrome
Optic atrophy, Cerebral cortical atrophy, Renal tubular acidosis, Ureteral atresia, Sensorineural... ORPHA:1493
Medullary Sponge Kidney
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis ORPHA:1309
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Hearing impairment, ... OMIM:303110
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Atrophy/Degeneration affecting the brains... ORPHA:99852
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Global ... ORPHA:52368
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Deafness, Autosomal Recessive 77
Tinnitus, Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:613079
Homozygous 11P15-P14 Deletion Syndrome
Congenital sensorineural hearing impairment, Generalized aminoaciduria, Failure to thrive, Renal ... OMIM:606528
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Organic aciduria, Failure to thrive, Renal tubular acidosis, Stress/infection... ORPHA:431361
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Hypercalciuria, Renal tubular acidosis, Failure to thrive OMIM:239199
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Increased circulating lactate concentration, Cerebellar atrophy, Failure to thrive, Cerebral atro... OMIM:615471
Leigh Syndrome
3-Methylglutaconic aciduria, Sensorineural hearing impairment, Hypsarrhythmia, Nephrotic syndrome... ORPHA:506
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Kearns-Sayre Syndrome
Renal Fanconi syndrome, Renal tubular acidosis, Lactic acidosis, Sensorineural hearing impairment OMIM:530000
Pyruvate Carboxylase Deficiency
Increased circulating lactate concentration, Lactic acidosis, Athetosis, Proximal renal tubular a... OMIM:266150
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Failure to thrive, Distal renal tubular acidosis, Metabolic acidosis, Isothenur... OMIM:611590
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
Deafness, X-Linked 5, With Peripheral Neuropathy
Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Tinnitus,... OMIM:300614
Deafness, Autosomal Dominant 41
Tinnitus, Progressive sensorineural hearing impairment OMIM:608224
Deafness, Autosomal Dominant 16
Tinnitus, Adult onset sensorineural hearing impairment OMIM:603964
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Usher Syndrome Type 1
Cerebral cortical atrophy, Vestibular hypofunction, Sensorineural hearing impairment, Subcortical... ORPHA:231169
Bor Syndrome
Multicystic kidney dysplasia, Atresia of the external auditory canal, Hearing impairment, Stenosi... ORPHA:107
Usher Syndrome Type 3
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment ORPHA:231183
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Hearing impairment, Stage 5 chronic kidney disease, Renal insu... OMIM:620536
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... OMIM:602588
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Failure to thrive, Glycosuria, Renal tu... ORPHA:2088
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Pendred Syndrome
Nephropathy, Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality... ORPHA:705
Familial Hypoaldosteronism
Failure to thrive, Metabolic acidosis, Decreased urinary potassium, Orthostatic hypotension, Prox... ORPHA:427
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
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec... ORPHA:3337
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Large for gestational age, Aganglionic m... OMIM:600501
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Hearing impairment, Cochlear degeneration, Head tremor, Spinocerebellar atrophy ORPHA:95433
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Low-set ears, Failure to thrive, Recurrent otitis media, Renal tubular acidosis, Metabolic acidos... OMIM:619575
Combined Oxidative Phosphorylation Deficiency 55
Increased circulating lactate concentration, High-frequency hearing impairment, Proximal tubulopa... OMIM:619743
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... OMIM:617519
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Tremor, Increased body weight, Proteinuria, Renal Fanconi ... ORPHA:263455
Renal Tubular Acidosis, Proximal
Hypercalciuria, Hyperchloremic acidosis, Proximal renal tubular acidosis OMIM:179830
Vestibulocochlear Dysfunction, Progressive
Tinnitus, Vestibular areflexia, Progressive hearing impairment OMIM:193005
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Conductive hearing impairment, Failure to thrive, Cranial nerve compression, Dista... ORPHA:2785
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Distal renal tubular acidosis, Impaired urinary acidification, Nephrolithiasis OMIM:179800
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Acidosis, Renal magnesium wasting, Ster... OMIM:248250
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Dilatated internal auditory canal, Cupped ear, Conductive hearing impa... OMIM:113650
Chromosome 14Q11-Q22 Deletion Syndrome
Low-set ears, Optic atrophy, Renal tubular acidosis, Failure to thrive OMIM:613457
Renal Tubular Acidosis Iii
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Gitelman Syndrome
Focal segmental glomerulosclerosis, Enuresis, Failure to thrive, Vertigo, Renal tubular acidosis,... ORPHA:358
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Failure to thrive, Hypernatriuria, Low-molecular-wei... ORPHA:47159
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis ORPHA:156
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Hearing impairment, Horseshoe ... ORPHA:93111
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Failure to ... ORPHA:411634
Carnitine Palmitoyltransferase I Deficiency
Ketonuria, Renal tubular acidosis, Dicarboxylic aciduria OMIM:255120
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Failure to thrive, Low-molecular-weight pr... ORPHA:18
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Infantile Nephropathic Cystinosis
Aminoaciduria, Acidosis, Failure to thrive, Glycosuria, Low-molecular-weight proteinuria, Hyperph... ORPHA:411629
Developmental And Epileptic Encephalopathy 50
Oroticaciduria, Global brain atrophy, Renal tubular acidosis, Failure to thrive OMIM:616457
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Cerebral cortical atrophy, Sensorineural hearing impairment, Impaired histidine ren... ORPHA:2158
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Lactic acidosis, Renal tubular acidosis, Increased body weight, Myoglobinuria ORPHA:264580
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight, Myoglobinuria, Lactic acidosis, Renal tubular acidosis ORPHA:79240
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Failure to thrive, Glycosuria, Cerebral atrophy, Failur... OMIM:219800
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Exa... OMIM:616881
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Histidinuria Due To A Renal Tubular Defect
Histidinuria, Impaired histidine renal tubular absorption, Macrotia, Sensorineural hearing impair... OMIM:235830
Alagille Syndrome 1
Low-set ears, Focal segmental glomerulosclerosis, Renal hypoplasia, Failure to thrive, Multiple s... OMIM:118450
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove... ORPHA:50815
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Fructose Intolerance, Hereditary
Proximal tubulopathy, Transient aminoaciduria, Failure to thrive, Glycosuria, Lactic acidosis, Hy... OMIM:229600
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Nephrocalcinosis, Increased circulating lactate concentration, Failure to thrive, ... ORPHA:534
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Sensorineural hearing ... OMIM:619260
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Abnormal auditory evoked potentials, Urinary retention, Abnormality o... ORPHA:99027
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Absent internal auditory canal, Hypoplasia of the cochlea, Profound sensorineural hearing impairment OMIM:620469
Crouzon Syndrome
Narrow internal auditory canal, Optic atrophy, Conductive hearing impairment, Hearing impairment ORPHA:207
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Failure to thrive, Lactic acidosis, Metabolic acidosis, Renal Fanconi ... OMIM:557000
Osteopetrosis, Autosomal Recessive 3
Optic nerve compression, Distal renal tubular acidosis OMIM:259730
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment, Torticollis ORPHA:73
7Q31 Microdeletion Syndrome
Low-set ears, Galactosuria, Enuresis nocturna, Childhood onset sensorineural hearing impairment, ... ORPHA:251061
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... ORPHA:1435
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, Renal insufficiency,... OMIM:276700
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol... ORPHA:990
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diffuse cerebral atrophy, Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Fa... ORPHA:206436
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Decreased nerve conduction velocity, Head tremor, Cervical spinal cord atrophy, Sens... ORPHA:101085
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Beta 2-microglobulinuria, Sterile pyuria, Decreased glomerular filtration rate, Pa... ORPHA:91500
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Acute kidney injury, Functional abnormality of the bl... ORPHA:96148
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Cockayne Syndrome Type 1
Optic atrophy, Failure to thrive, Hearing impairment, Renal insufficiency, Abnormality of periphe... ORPHA:90321
Deafness, Unilateral
Unilateral deafness OMIM:125000
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Hearing impairment, Failure to thrive, Polyuria OMIM:560000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Renal insufficiency, Renal tubular dysfunction, Dystonia, Choreoathetosis ORPHA:289916
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction ORPHA:1380
Hypomagnesemia 6, Renal
Vertigo, Impaired renal tubular reabsorption of magnesium OMIM:613882
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Failure to thrive, Low-molecular-weight proteinuria, Stage 5 chronic kidney diseas... OMIM:309000
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Cerebral atrophy, Decreased nerve conduction velocity, Short-segment aganglio... OMIM:609136
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Cerebellar atrophy, Hearing impairment, Failure to thrive, S... OMIM:193700
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori... OMIM:611584
Familial Renal Glucosuria
Nephropathy, Glycosuria, Renal tubular dysfunction, Recurrent urinary tract infections ORPHA:69076
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Urinary incontinence, EEG abnormality ORPHA:206448
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Failure to thrive, Cerebral atrophy, Decrease... OMIM:133540
Saethre-Chotzen Syndrome
Low-set ears, Optic atrophy, Blepharospasm, Conductive hearing impairment, Hearing impairment, Pr... ORPHA:794
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Failure to thrive, Hypernatriuria, Decreased glomerular filtration rate, Reduce... OMIM:602522
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Anteverted ears, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnormality of the... ORPHA:171929
Multiple Acyl-Coa Dehydrogenase Deficiency
Acidosis, Generalized aminoaciduria, Proximal tubulopathy, Glutaric aciduria, Glycosuria, Elevate... OMIM:231680
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Failure to thrive, Stage 5 chronic... ORPHA:89938
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Failure to thrive, Cerebr... OMIM:216400
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Ketonuria, Glycosuria, Hearing impairment, Failure to thrive, Renal tubular... ORPHA:99885
Cerebrotendinous Xanthomatosis
Optic atrophy, Increased circulating lactate concentration, Abnormal auditory evoked potentials, ... ORPHA:909
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, A... ORPHA:79330
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Glycosuria, Renal insufficiency, Proteinuria, Renal ... ORPHA:447
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Isolated Complex I Deficiency
Proximal tubulopathy, Failure to thrive, Lactic acidosis, Sensorineural hearing impairment, Optic... ORPHA:2609
Fanconi-Bickel Syndrome
Acidosis, Generalized aminoaciduria, Ketonuria, Glycosuria, Failure to thrive, Beta 2-microglobul... OMIM:227810
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Hearing impairment, Aplasia of the inner ear, Abnormal cranial nerve morphology, Sensorineural he... ORPHA:90024
Isotretinoin-Like Syndrome
Atresia of the external auditory canal, Anotia, Aplasia/Hypoplasia of the inner ear, Bilateral se... ORPHA:2306
Cystinosis
Nephropathy, Aminoaciduria, Failure to thrive, Renal insufficiency, Renal tubular dysfunction, Pr... ORPHA:213
Tick-Borne Encephalitis
Hearing impairment, Vertigo, Abnormal cranial nerve morphology, Abnormal glossopharyngeal nerve m... ORPHA:297
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Cerebral cortical atrophy,... ORPHA:798
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Calcium nephrolithiasis, Failure to thrive, Renal tubular dysfunction, H... OMIM:241530
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Increased circulating lactate concentration, Glycosuria, Failure to thrive, Lactic acidosis, Rena... OMIM:616539
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Failure to thrive ORPHA:401973
Duane Retraction Syndrome
Blepharospasm, Hearing impairment, Narrow internal auditory canal, Stenosis of the external audit... ORPHA:233
Cardiospondylocarpofacial Syndrome
Low-set ears, Conductive hearing impairment, Failure to thrive, Fusion of middle ear ossicles, Re... OMIM:157800
Treacher-Collins Syndrome
Blepharospasm, Conductive hearing impairment, Failure to thrive, Narrow internal auditory canal, ... ORPHA:861
Norrie Disease
Optic atrophy, Abnormal helix morphology, Cerebral cortical atrophy, Failure to thrive, Sensorine... ORPHA:649
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cerebral atrophy, Renal tubular dysfunction, Decreased body weight OMIM:614886
Lead Poisoning
Chronic kidney disease, Abnormality of the autonomic nervous system, Renal tubular dysfunction, T... ORPHA:330015
Ethylene Glycol Poisoning
Elevated serum anion gap, Lactic acidosis, Renal insufficiency, Metabolic acidosis, Renal tubular... ORPHA:31826
Mccune-Albright Syndrome
Renal phosphate wasting, Hearing impairment, Renal tubular dysfunction, Hyperphosphaturia ORPHA:562
Wilson Disease
Aminoaciduria, Glycosuria, Hand tremor, Decreased nerve conduction velocity, Limb dystonia, Hyper... OMIM:277900
Andersen-Tawil Syndrome
Low-set ears, Renal hypoplasia, Renal tubular dysfunction ORPHA:37553
Floating-Harbor Syndrome
Low-set ears, Nephrocalcinosis, Dilatation of the renal pelvis, Conductive hearing impairment, Re... ORPHA:2044
Proteus Syndrome
Low-set ears, Long penis, Narrow internal auditory canal, Exostosis of the external auditory cana... ORPHA:744

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slc12a7

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 Slc12a7.

No publications found that use IMPC mice or data for Slc12a7.

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
Slc12a7tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc12a7em1(IMPC)Bay Exon Deletion Mice
Slc12a7tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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