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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
Select physiological systems to view:
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 fundus

16 Images

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Eye Morphology

VIP of right fundus

16 Images

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MicroCT E18.5

Embryo reconstruction

6 Images

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Eye Morphology

VIP of left eye

16 Images

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Eye Morphology

VIP of right eye

16 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 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment 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
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
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 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Recessive 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 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 77
Bilateral sensorineural hearing impairment OMIM:613079
Deafness, Autosomal Recessive 63
Congenital sensorineural hearing impairment OMIM:611451
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment OMIM:618013
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 15
Sensorineural hearing impairment, Prelingual 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
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, Impaired Intellectual Development, 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
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Renal tubular acidosis, Sensorineural hearing impairment, Nephrolithiasis OMIM:267300
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Metabolic acidosis, Bilateral sensorineural hearing impairment,... OMIM:602722
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Increased serum lactate, Chronic kidney disease, Cerebral atrophy, Hypsarrhythmia, Renal tubular ... ORPHA:324525
Say Syndrome
Macrotia, Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Metabolic acidosis, Low-set... OMIM:613404
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Increased serum lactate, Sensorineural hearing impairment, Proximal renal tubular acidosis, Lacti... OMIM:615824
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Stage 5 chronic kidney diseas... OMIM:268315
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Small for gestational age, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Metabolic aci... OMIM:208085
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Renal Tubular Acidosis, Proximal
Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis OMIM:179830
Combined Oxidative Phosphorylation Deficiency 11
Renal insufficiency, Increased serum lactate, Renal hypoplasia, Renal cyst, Lactic acidosis, Rena... OMIM:614922
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Sensorineural hearing impairment, Chronic kidney disease, Thickened glomerular basem... OMIM:146255
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tubular acidosis, P... OMIM:604278
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Lactic acidosis, Aminoa... ORPHA:436271
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Proteinuria, Increased serum lactate, Sensorineural hearing impairment, Optic ... OMIM:220110
Gracile Syndrome
Lactic acidosis, Renal Fanconi syndrome, Hearing impairment ORPHA:53693
Vici Syndrome
Sensorineural hearing impairment, Optic atrophy, Ureteral atresia, Renal tubular acidosis, EEG ab... ORPHA:1493
Hydroxykynureninuria
Renal tubular acidosis, Congenital sensorineural hearing impairment, Metabolic acidosis ORPHA:79155
Chromosome Xq21 Deletion Syndrome
Obesity, Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete ... OMIM:303110
Deafness, Autosomal Dominant 86
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus OMIM:620280
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Failure to thrive, Abnormal auditory evoked potenti... ORPHA:99852
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Congenital sensorineural hearing impairment, Failure to thrive, Genera... OMIM:606528
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Stress/infection-induced lactic acidosis, Choreoathetosis, Renal tubular acid... ORPHA:431361
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebellar atrophy, Abnormal pinna morphology, Hypospadias, Small for gestational age, Increased ... OMIM:615471
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Leigh Syndrome
Lactic acidosis, Choreoathetosis, Complex organic aciduria, Hypsarrhythmia, Renal tubular dysfunc... ORPHA:506
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Renal tubular acidosis, Failure to thrive, Hypercalciuria OMIM:239199
Kearns-Sayre Syndrome
Lactic acidosis, Renal tubular acidosis, Sensorineural hearing impairment, Renal Fanconi syndrome OMIM:530000
Pyruvate Carboxylase Deficiency
Increased serum lactate, Lactic acidosis, Athetosis, Proximal renal tubular acidosis OMIM:266150
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Generalized d... ORPHA:52368
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Metabolic acidosis, Nephrocalcinosis, Distal renal tubular acidosis, Failure to thri... OMIM:611590
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Tinnitus OMIM:608224
Deafness, Autosomal Dominant 16
Adult onset sensorineural hearing impairment, Tinnitus OMIM:603964
Usher Syndrome Type 1
Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest... ORPHA:231169
Bor Syndrome
Ureteropelvic junction obstruction, Renal insufficiency, Multicystic kidney dysplasia, Facial pal... ORPHA:107
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... OMIM:248250
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypercalciuria, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular aci... ORPHA:2088
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Familial Hypoaldosteronism
Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Proximal renal tubular ... ORPHA:427
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Increased serum lactate, Enuresis, Renal Fanconi syndrome, Organi... OMIM:619743
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... OMIM:600501
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Metabolic ketoacidosis, Tremor, Increased body weight, Re... ORPHA:263455
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Overweight, Sensorineural hearing impairment, Metabolic acidosis, Renal tubular acidosis, Low-set... OMIM:619575
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Cranial nerve compression, Optic atrophy, Proximal renal tubular acidosis, Nep... ORPHA:2785
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Tinnitus, Progressive hearing impairment OMIM:193005
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Spinocerebellar atrophy, Head tremor, Cochlear degeneration, Hearing impairment ORPHA:95433
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Distal renal tubular acidosis, Nephrocalcinosis, Nephrolithiasis OMIM:179800
Branchiootorenal Syndrome 1
Renal dysplasia, Renal malrotation, Mixed hearing impairment, Facial palsy, Dilatated internal au... OMIM:113650
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Dicarboxylic aciduria OMIM:255120
Chromosome 14Q11-Q22 Deletion Syndrome
Renal tubular acidosis, Failure to thrive, Optic atrophy, Low-set ears OMIM:613457
Renal Tubular Acidosis Iii
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Metabolic alkalosis, Vertigo, Tub... ORPHA:358
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis ORPHA:156
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Juvenile Nephropathic Cystinosis
Renal insufficiency, Failure to thrive, Proteinuria, Chronic kidney disease, Abnormal urine potas... ORPHA:411634
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Failure to thrive, Abnormal tubulointerstitial morphology, Renal tubular dysfu... ORPHA:411629
Histidinuria-Renal Tubular Defect Syndrome
Impaired histidine renal tubular absorption, Histidinuria, Sensorineural hearing impairment, Macr... ORPHA:2158
Developmental And Epileptic Encephalopathy 50
Renal tubular acidosis, Failure to thrive, Oroticaciduria, Global brain atrophy OMIM:616457
Distal Renal Tubular Acidosis
Hyperphosphaturia, Chronic metabolic acidosis, Failure to thrive, Hypocitraturia, Sensorineural h... ORPHA:18
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Lactic acidosis, Renal tubular acidosis, Myoglobinuria, Failure to thrive ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Lactic acidosis, Renal tubular acidosis, Myoglobinuria, Increased body weight ORPHA:79240
Histidinuria Due To A Renal Tubular Defect
Impaired histidine renal tubular absorption, Histidinuria, Sensorineural hearing impairment, Macr... OMIM:235830
Alagille Syndrome 1
Duplicated collecting system, Failure to thrive, Multiple small medullary renal cysts, Renal hypo... OMIM:118450
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Failure to thrive, ... OMIM:616881
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Cystinosis, Nephropathic
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Failure to thrive in infancy, Stag... OMIM:219800
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... OMIM:229600
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Glomerulopathy, Renal insufficiency, Proteinuria, Increased se... ORPHA:534
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Orthostatic hypotension, EEG with generalized slow activity, ... ORPHA:99027
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing... OMIM:619260
Crouzon Syndrome
Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hearing impairment ORPHA:207
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Hypercalciuria, Lactic acidosis, Metabolic acidosis, 3-Methylglutaric ... OMIM:557000
Osteopetrosis, Autosomal Recessive 3
Distal renal tubular acidosis, Optic nerve compression OMIM:259730
Gorham-Stout Disease
Torticollis, Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
7Q31 Microdeletion Syndrome
Torticollis, Hypoplasia of the cochlea, Enuresis nocturna, Hypoplasia of the semicircular canal, ... ORPHA:251061
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Synotia, Narrow internal auditory canal, ... ORPHA:990
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Urinary incontinence, Decreased nerv... ORPHA:101085
Distal Deletion 10Q
Failure to thrive, Congenital sensorineural hearing impairment, Functional abnormality of the bla... ORPHA:96148
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubula... ORPHA:91500
Tyrosinemia, Type I
Renal insufficiency, Nephrocalcinosis, Metabolic acidosis, Renal Fanconi syndrome, Glomerular scl... OMIM:276700
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... ORPHA:3240
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... ORPHA:1435
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Renal insufficiency, Failure to thrive, Proteinuria, Tremor,... ORPHA:90321
Deafness, Unilateral
Unilateral deafness OMIM:125000
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Cachexia, Decreased ner... ORPHA:206436
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction ORPHA:1380
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Optic atrophy, Renal tubular dysfunction, Choreoathetosis, Dystonia ORPHA:289916
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Proximal tubulopathy, Polyuria, Hearing impairment OMIM:560000
Hypomagnesemia 6, Renal
Impaired renal tubular reabsorption of magnesium, Vertigo OMIM:613882
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... OMIM:309000
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Small for gestational age, Abnormal auditory evoked potentials, Failure to th... OMIM:193700
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... OMIM:609136
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Saethre-Chotzen Syndrome
Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Optic atrop... ORPHA:794
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Hypokalemic hypochloremic metab... OMIM:602522
Trisomy 10P
Posteriorly rotated ears, Abnormality of the kidney, Abnormal auditory evoked potentials, Small f... ORPHA:171929
Multiple Acyl-Coa Dehydrogenase Deficiency
Abnormal pinna morphology, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Pr... OMIM:231680
Cockayne Syndrome B
Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked potentials,... OMIM:133540
Bartter Syndrome Type 4
Hypokalemic metabolic alkalosis, Failure to thrive, Small for gestational age, Renal salt wasting... ORPHA:89938
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Urinary incontinence, EEG abnormality ORPHA:206448
Cockayne Syndrome A
Cerebellar atrophy, Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditor... OMIM:216400
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Hemoglobinuria, Renal ... ORPHA:447
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Weight loss, Renal tubular ... ORPHA:99885
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Resting tremor, Abnormal auditory evoked potentials, Optic... ORPHA:909
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia ORPHA:79330
Isolated Complex I Deficiency
Optic disc pallor, Optic neuropathy, Sensorineural hearing impairment, Lactic acidosis, Proximal ... ORPHA:2609
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Hearing impairment, Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Abnorma... ORPHA:90024
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Failure to thrive, Chronic acidosis, Hypercalciuria, G... OMIM:227810
Tick-Borne Encephalitis
Facial palsy, Tremor, Vertigo, Abnormal cranial nerve morphology, Abnormal glossopharyngeal nerve... ORPHA:297
Cystinosis
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy, Failure ... ORPHA:213
Schinzel-Giedion Syndrome
Abnormality of the stapes, Hypospadias, Failure to thrive in infancy, Aganglionic megacolon, Abno... ORPHA:798
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi... ORPHA:2306
Duane Retraction Syndrome
Ectopic kidney, External ear malformation, Sensorineural hearing impairment, Blepharospasm, Steno... ORPHA:233
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Increased serum lactate, Tremor, Renal tubular dysfunction, Lactic acidosis, Brain atrophy, Glyco... OMIM:616539
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Hypercalciuria, Renal phosphate wasting, Renal tubular dysfunction, Fail... OMIM:241530
Mend Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Low-set ears ORPHA:401973
Familial Renal Glucosuria
Recurrent urinary tract infections, Renal tubular dysfunction, Enuresis, Glycosuria, Nephropathy ORPHA:69076
Wilson Disease
Limb dystonia, Hyperphosphaturia, Dystonia, Proteinuria, Decreased nerve conduction velocity, Tre... OMIM:277900
Treacher-Collins Syndrome
Hypoplasia of penis, Failure to thrive, Blepharospasm, Microtia, Conductive hearing impairment, A... ORPHA:861
Cardiospondylocarpofacial Syndrome
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Vesicoureteral reflux, Hor... OMIM:157800
Norrie Disease
Failure to thrive, Cachexia, Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abn... ORPHA:649
Ethylene Glycol Poisoning
Renal insufficiency, Facial palsy, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... ORPHA:31826
Lead Poisoning
Small for gestational age, Chronic kidney disease, Renal tubular dysfunction, Tubulointerstitial ... ORPHA:330015
Peroxisome Biogenesis Disorder 12A (Zellweger)
Renal tubular dysfunction, Cerebral atrophy, Decreased body weight OMIM:614886
Mccune-Albright Syndrome
Renal phosphate wasting, Renal tubular dysfunction, Hyperphosphaturia, Hearing impairment ORPHA:562
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Small for gestational age, Dilatation of the renal pelvis, Stage 5 c... ORPHA:2044
Andersen-Tawil Syndrome
Renal tubular dysfunction, Renal hypoplasia, Low-set ears ORPHA:37553
Proteus Syndrome
Cachexia, Long penis, Renal cyst, Low-set ears, Macrotia, Narrow internal auditory canal 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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