ENSMUSG00000020651


Mus musculus

Features
Gene ID: ENSMUSG00000020651
  
Biological name :Slc26a4
  
Synonyms : Pendrin / Q9R155 / Slc26a4
  
Possible biological names infered from orthology : O43511 / solute carrier family 26 member 4
  
Species: Mus musculus
  
Chr. number: 12
Strand: -1
Band: A2
Gene start: 31519827
Gene end: 31559969
  
Corresponding Affymetrix probe sets: 10399854 (MoGene1.0st)   1419725_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000001253
NCBI entrez gene - 23985     See in Manteia.
MGI - MGI:1346029
RefSeq - XM_017315068
RefSeq - NM_011867
RefSeq - XM_006515091
RefSeq - XM_006515092
RefSeq Peptide - NP_035997
swissprot - Q9R155
Ensembl - ENSMUSG00000020651
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 slc26a4ENSDARG00000069431Danio rerio
 SLC26A4ENSGALG00000007998Gallus gallus
 O43511ENSG00000091137Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9WVC8 / Slc26a3 / Chloride anion exchanger / P40879* / solute carrier family 26 member 3*ENSMUSG0000000122545
Q99NH7 / Slc26a5 / Prestin / P58743* / solute carrier family 26 member 5*ENSMUSG0000002901535
Slc26a6 / solute carrier family 26, member 6 / Q9BXS9*ENSMUSG0000002325934
Slc26a9 / solute carrier family 26 member 9 / Q7LBE3*ENSMUSG0000004226832
Q62273 / Slc26a2 / Sulfate transporter / P50443* / solute carrier family 26 member 2*ENSMUSG0000003432028
P58735 / Slc26a1 / solute carrier family 26 (sulfate transporter), member 1 / Q9H2B4* / solute carrier family 26 member 1*ENSMUSG0000004695928
Slc26a10 / solute carrier family 26 member 10 / Q8NG04*ENSMUSG0000004044127
Q8R0C3 / Slc26a8 / Testis anion transporter 1 / Q96RN1* / solute carrier family 26 member 8*ENSMUSG0000003619626
Q8R2Z3 / Slc26a7 / Anion exchange transporter / Q8TE54* / solute carrier family 26 member 7*ENSMUSG0000004056925


Protein motifs (from Interpro)
Interpro ID Name
 IPR001902  SLC26A/SulP transporter
 IPR002645  STAS domain
 IPR011547  SLC26A/SulP transporter domain
 IPR018045  Sulphate anion transporter, conserved site
 IPR030285  Pendrin
 IPR036513  STAS domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006885 regulation of pH IMP
 biological_processGO:0008272 sulfate transport IEA
 biological_processGO:0009887 animal organ morphogenesis ISS
 biological_processGO:0015698 inorganic anion transport IEA
 biological_processGO:0015701 bicarbonate transport IBA
 biological_processGO:0015705 iodide transport IEA
 biological_processGO:0019532 oxalate transport IEA
 biological_processGO:0032880 regulation of protein localization IMP
 biological_processGO:0042391 regulation of membrane potential IBA
 biological_processGO:0051453 regulation of intracellular pH IBA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0098656 anion transmembrane transport IEA
 biological_processGO:1902358 sulfate transmembrane transport IEA
 biological_processGO:1902476 chloride transmembrane transport IBA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0031526 brush border membrane IDA
 cellular_componentGO:0070062 extracellular exosome IEA
 molecular_functionGO:0005254 chloride channel activity IBA
 molecular_functionGO:0008271 secondary active sulfate transmembrane transporter activity IEA
 molecular_functionGO:0008509 anion transmembrane transporter activity ISS
 molecular_functionGO:0015106 bicarbonate transmembrane transporter activity IBA
 molecular_functionGO:0015108 chloride transmembrane transporter activity IEA
 molecular_functionGO:0015111 iodide transmembrane transporter activity IEA
 molecular_functionGO:0015116 sulfate transmembrane transporter activity IBA
 molecular_functionGO:0015301 anion:anion antiporter activity IBA
 molecular_functionGO:0019531 oxalate transmembrane transporter activity IBA


Pathways (from Reactome)
Pathway description
Multifunctional anion exchangers


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000026 abnormal inner ear morphology "malformation or malfunction of any components of the labyrinth, including the semicircular canals, vestibule and cochlea" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: C3HeB/FeJ-Slc26a4loop

 MP:0000031 abnormal cochlea morphology "any anomaly, deformity, malformation, impairment or dysfunction of the cochlea" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator, J:21484]
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Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: C3HeB/FeJ-Slc26a4loop

 MP:0000034 abnormal vestibule morphology "malformed cavity between the semicircular canals and the cochlea of the inner ear" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]
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Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: involves: C3HeB/FeJ

 MP:0000042 abnormal organ of Corti "abnormalities associated with the highly specialized epithelium in the floor of the ductus cochlearis; also referred to a spiral organ (organum spirale), or acoustic papilla" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Slc26a4pdsm/Slc26a4pdsm
Genetic Background: BXA7/PgnJ-Slc26a4pdsm/J

 MP:0000043 organ of Corti degeneration "a retrogressive impairment of function or destruction of the highly specialized epithelium in the floor of the ductus cochlearis" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

 MP:0000045 abnormal hair cell morphology "malformation of the sensory epithelial cells of the inner ear" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000681 abnormal thyroid gland morphology "anomalous structure of the endocrine gland located in the front and to the sides of the upper part of the trachea and which secretes thyroid hormone and calcitonin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ggt1enu1/Ggt1enu1
Genetic Background: C57BL/6J-Ggt1enu1

 MP:0001394 circling "repeated, compulsive movement in a circle; often associated with inner ear defects" [MGI:CLS, J:61295]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Slc26a4pdsm/Slc26a4pdsm
Genetic Background: BXA7/PgnJ-Slc26a4pdsm/J

Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: involves: C3HeB/FeJ

Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001395 bi-directional circling "circling behavior exhibited in both clockwise and counterclockwise directions" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Cryba1tm1a(EUCOMM)Hmgu/Cryba1tm1a(EUCOMM)Hmgu
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: involves: C3HeB/FeJ

 MP:0001410 head bobbing "compulsive up and down movement of the head" [J:17123]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

Allelic Composition: Slc26a4pdsm/Slc26a4pdsm
Genetic Background: BXA7/PgnJ-Slc26a4pdsm/J

 MP:0001522 impaired swimming "reduced ability or inability to swim" [J:45446, J:39081]
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Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001525 impaired balance "reduced ability of an animal to maintain equilibrium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:64962, J:17123]
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Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001526 abnormal placing response "altered ability to stretch and lift the forelimbs and head to grab a close edge " [J:66943, MGI:cml]
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Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001967 deafness "inability to hear" [J:57651]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Slc26a4pdsm/Slc26a4pdsm
Genetic Background: BXA7/PgnJ-Slc26a4pdsm/J

Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: involves: C3HeB/FeJ

 MP:0002428 abnormal semicircular canal "anomaly of the organ of balance composed of three long bony tubes of the labyrinth" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: involves: C3HeB/FeJ

 MP:0002675 asthenozoospermia "loss or reduction of the mobility of the spermatozoa, frequently associated with infertility" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Slc26a4pdsm/Slc26a4pdsm
Genetic Background: BXA7/PgnJ-Slc26a4pdsm/J

 MP:0002687 oligozoospermia "reduced concentration of spermatozoa " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:57312]
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Allelic Composition: Slc26a4pdsm/Slc26a4pdsm
Genetic Background: BXA7/PgnJ-Slc26a4pdsm/J

 MP:0002894 abnormal otoliths "malformed crystalline calciferous particles adhering to the otolithic membrane" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002895 abnormal otolithic membrane "malformations of the gelatinous membrane surmounting the acoustic maculae of the saccule and utricle and containing minute calciferous particles (otoliths)" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: involves: C3HeB/FeJ

 MP:0002978 absent otoliths "absence of the crystalline calciferous particles adhering to the otolithic membrane" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

Allelic Composition: Slc26a4pdsm/Slc26a4pdsm
Genetic Background: BXA7/PgnJ-Slc26a4pdsm/J

Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: involves: C3HeB/FeJ

 MP:0003016 increased circulating bicarbonate level "elevated concentration of inorganic salts that contain the -HCO3 radical in the circulation, which are an important factor in regulating the pH of the blood " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background: involves: 129S5/SvEvBrd * FVB/N

 MP:0003143 enlarged otoliths "increased average size of the crystalline calciferous particles adhering to the otolithic membrane" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:67072]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003144 reduced number of otoliths "decreased average number of the crystalline calciferous particles adhering to the otolithic membrane" [J:30611, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Slc26a4pdsm/Slc26a4pdsm
Genetic Background: BXA7/PgnJ-Slc26a4pdsm/J

Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003146 absent cochlear ganglion "absence of the group of nerve cell bodies that conveys auditory sensation from the organ of Corti to the hindbrain" [J:36834, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Slc26a4pdsm/Slc26a4pdsm
Genetic Background: BXA7/PgnJ-Slc26a4pdsm/J

 MP:0003148 reduced cochlear coiling "a reduction in cochlear coiling or number of turns; in wild-type mice, the cochlea most commonly exhibits one and three-fourth turns" [J:56294, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Slc26a4pdsm/Slc26a4pdsm
Genetic Background: BXA7/PgnJ-Slc26a4pdsm/J

 MP:0003149 abnormal tectorial membrane morphology "malformation, malfunction or absence of the overlaying membrane of cochlear duct, an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells; sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair cell membrane potential, transducing sound into electrical signals" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:77634]
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Allelic Composition: Slc26a4pdsm/Slc26a4pdsm
Genetic Background: BXA7/PgnJ-Slc26a4pdsm/J

Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: C3HeB/FeJ-Slc26a4loop

 MP:0003169 abnormal scala media morphology "any malformation or absence of the division of the spiral canal of the cochlea that contains the organ of Corti (the neuroepithelial receptor organ for hearing)" [J:23837, J:46972, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Slc26a4pdsm/Slc26a4pdsm
Genetic Background: BXA7/PgnJ-Slc26a4pdsm/J

 MP:0003205 testicular atrophy "wasting of the male reproductive glands resulting in reduced size" [RGD:Rat Genome Database submission]
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Allelic Composition: Slc26a4pdsm/Slc26a4pdsm
Genetic Background: BXA7/PgnJ-Slc26a4pdsm/J

 MP:0003308 abnormal cochlear sensory epithelium 
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Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: C3HeB/FeJ-Slc26a4loop

 MP:0004231 abnormal calcium ion homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of calcium ions within the body or between a cell and its external environment" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

 MP:0004249 abnormal crista ampullaris morphology "anomaly in the elevation found on the inner surface of the ampullae of each semicircular duct; filaments of the vestibular nerve pass through the crista to reach hair cells on its surface; the hair cells are capped by the cupula, a gelatinous protein-polysaccharide mass" [J:60193, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: involves: C3HeB/FeJ

 MP:0004287 abnormal spiral limbus morphology "any structural abnormality in the border of the spiral lamina, i.e. the thickened periosteum covering the upper plate of the bony spiral lamina of the cochlea" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

 MP:0004316 enlarged saccule "enlarged size of the cavity between the semicircular canals and the cochlea of the inner ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

 MP:0004324 vestibular hair cell degeneration "degeneration or loss of the sensory epithelial cells of the maculae and cristae of the membranous labyrinth of the inner ear which are normally in synaptic contact with the vestibular nerve" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004328 decreased vestibular hair cell number "decreased number of cells in the sensory epithelium of the maculae and cristae of the membranous labyrinth of the internal ear which are normally in synaptic contact with the vestibular nerve" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004331 saccular macula degeneration "degeneration or loss of the oval neuroepithelial sensory receptor in the anterior wall of the saccule" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

 MP:0004334 utricular macular degeneration "degeneration or loss of the neuroepithelial sensory receptor in the inferolateral wall of the utricle" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

 MP:0004362 cochlear hair cell degeneration "degeneration or loss of the sensory epithelial cells of the cochlea; these cells are in synaptic contact with the auditory nerve" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: C3HeB/FeJ-Slc26a4loop

 MP:0004363 stria vascularis degeneration "degeneration or loss of the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004364 thin stria vascularis "reduced thickness of the stratified, secretory epithelium which lines the upper part of the cochlear spiral ligament and maintains potassium ion homeostasis in the endolymph" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

 MP:0004365 abnormal strial basal cells "any structural abnormality in the polarized cells which are juxtaposed to fibrocytes in the underlying spiral ligament" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

 MP:0004366 abnormal strial marginal cells "any structural abnormality in the polarized columnar cells of epithelial origin which cover the lateral surface of the cochlear duct, secrete potassium ions and form a continuous sheet in contact with the endolymph; marginal cells form extensive interdigitations with the basal and intermediate cells in the normal adult stria" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004367 abnormal strial intermediate cells "any structural abnormality in the melanocytes known to migrate from the neural crest during ontogeny to become located between the epithelial marginal cell layer and the mesodermal basal cell layer within the intrastrial space; the predominant cellular component of the electrogenic machinery that generates an endocochlear potential (80-100 mV)" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

 MP:0004398 cochlear inner hair cell degeneration "degeneration or loss of the single row of flask-shaped inner hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: C3HeB/FeJ-Slc26a4loop

 MP:0004404 cochlear outer hair cell degeneration "degeneration or loss of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: C3HeB/FeJ-Slc26a4loop

 MP:0004405 absent cochlear hair cells "absence of the sensory epithelial cells of the cochlea; these cells are normally in synaptic contact with the auditory nerve" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4pdsm/Slc26a4pdsm
Genetic Background: BXA7/PgnJ-Slc26a4pdsm/J

 MP:0004408 decreased cochlear hair cell number "decreased number of the sensory epithelial cells of the cochlea, which are normally in synaptic contact with the auditory nerve" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4pdsm/Slc26a4pdsm
Genetic Background: BXA7/PgnJ-Slc26a4pdsm/J

 MP:0004410 absent endocochlear potential "absence of the electrical potential difference between the endolymphatic and perilymphatic compartments of the cochlea, indicating a primary defect in fluid homeostasis of the inner ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

 MP:0004411 decreased endocochlear potential "reduction of the electrical potential difference between the endolymphatic and perilymphatic compartments of the cochlea" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

 MP:0004487 type I spiral ligament fibrocyte degeneration "degeneration or loss of type I spiral ligament fibrocytes which occupy the region beneath the stria vascularis" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

 MP:0004488 type II spiral ligament fibrocyte degeneration "degeneration or loss of type II spiral ligament fibrocytes found in the suprastrial zone and the central area of the spiral ligament beneath the spiral prominence" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

 MP:0004493 dilated cochlea "the luminal space of the cochlea is increased in volume or area, usually with an increase in contained fluid" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

 MP:0004521 abnormal cochlear hair cell stereociliary bundle morphology "any structural anomaly or disruption of the typical pattern of arrangement of mechanosensitive hair bundles which are composed of thick long microvilli (stereocilia) and are located at the apical end of cochlear inner and outer hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: C3HeB/FeJ-Slc26a4loop

 MP:0004533 fused inner hair cell stereocilia "coalescence of the nonmotile, actin-filled specialized microvilli (stereocilia) normally arrayed on cochlear inner hair cells, often resulting in giant stereocilia" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

 MP:0004591 enlarged tectorial membrane "increased size of the overlaying membrane of cochlear duct, an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: C3HeB/FeJ-Slc26a4loop

 MP:0004696 abnormal thyroid follicle morphology "any structural abnormality of the small spherical vesicular components of the thyroid gland that are lined with epithelium and contain a colloid substance that both serves as a reservoir of materials for thyroid hormone production and stores thyroid hormones" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: C3HeB/FeJ-Slc26a4loop

 MP:0004740 sensorineural hearing loss "a form of progressive hearing loss due to a lesion of the auditory division of cranial nerve VIII or the inner ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

 MP:0004742 abnormal vestibular system physiology "any functional anomaly of the sensory system responsible for the sense of head position and movement of the body through space; such anomalies may include impaired balance, dizziness, poor regulation of postural muscle tone and inability to detect quick movements of the head " [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: involves: C3HeB/FeJ

Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Slc26a4m1Btlr/Slc26a4m1Btlr
Genetic Background: C57BL/6J-Slc26a4m1Btlr

 MP:0004749 nonsyndromic hearing loss "a form of progressive hearing loss that is not associated with visible abnormalities of the external ear or other signs and symptoms; the vast majority of hereditary hearing loss is nonsyndromic and can be associated with abnormalities of the middle ear and/or inner ear" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

 MP:0004862 small scala tympani "volume reduction of the division of the spiral canal of the cochlea lying on the basal side of the spiral lamina " [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

 MP:0004863 thin spiral ligament "reduced thickness of the periosteal lining of the bony cochlea that forms the outer wall of the cochlear duct to which the basal lamina attaches" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

 MP:0004924 abnormal behavior "anomalies in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005191 head tilt "condition in which the portion of the body containing the brain and organs of sight, hearing, taste, and smell lists to the side" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Slc26a4pdsm/Slc26a4pdsm
Genetic Background: BXA7/PgnJ-Slc26a4pdsm/J

Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005307 head tossing "compulsive flailing of the head in multiple directions" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cryba1tm1a(EUCOMM)Hmgu/Cryba1tm1a(EUCOMM)Hmgu
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0006011 abnormal endolymphatic duct morphology "any structural alteration in the small membranous canal, connecting with both saccule and utricle of the membranous labyrinth, passing through the aqueduct of vestibule, and terminating in the endolymphatic sac." [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: ApcMin/Apc+,Pla2g2aMom1-r/Pla2g2a+
Genetic Background: either: (AKR/J x C57BL/6J-ApcMin)F1 or (MA/MyJ x C57BL/6J-ApcMin)F1 or (CAST/EiJ x C57BL/6J-ApcMin)F1

 MP:0006012 dilated endolymphatic duct "an expansion in the volume of the endolymphatic duct" [smb:Susan M Bello, Mouse Genome Informatics Curator, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:67072:]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: C3HeB/FeJ-Slc26a4loop

 MP:0006014 dilated endolymphatic sac "an expansion in the volume of the endolymphatic sac" [smb:Susan M Bello, Mouse Genome Informatics Curator, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:67072:]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0006025 distended Reissner membrane "an increase in the volume of endolymphatic fluid that results in distortion of the vestibular membrane" [smb:Susan M Bello, Mouse Genome Informatics Curator, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Slc26a4pdsm/Slc26a4pdsm
Genetic Background: BXA7/PgnJ-Slc26a4pdsm/J

 MP:0006089 abnormal saccule morphology "malformation in the smaller of the two sacs in the vestibule" [smb:Susan M Bello, Mouse Genome Informatics Curator, Taber s Cyclopedic Medical Dictionary:19th edition: ISBN N 0-8036-0655-99, J:92940]
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Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: involves: C3HeB/FeJ

 MP:0006090 abnormal utricle morphology "malformation in the larger of the two sacs in the vestibule" [smb:Susan M Bello, Mouse Genome Informatics Curator, Taber s Cyclopedic Medical Dictionary:19th edition: ISBN N 0-8036-0655-99, J:92940]
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Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: involves: C3HeB/FeJ

 MP:0006325 impaired hearing "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0006358 absent pinna reflex "complete failure to respond to an auditory stimulus by a characteristic ear twitch" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: involves: C3HeB/FeJ

 MP:0006389 abnormal vestibular endolymph "change in the normal production (volume) or ionic homeostasis of the fluid contained within the vestibule of the inner ear; unlike cochlear endolymph this fluid does not have a high potential" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

 MP:0006391 abnormal vestibular endolymph ionic homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of charged molecules in the vestibular endolymph" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

 MP:0006403 abnormal cochlear endolymph ionic homeostasis "anomaly in the state of equilibrium in the cochlear endolymph with respect to charged molecules; cochlear endolymph is not only an unusual extracellular fluid for its high potassium ion and low sodium ion concentration but also for its low calcium ion concentration, high HCO3- concentration and low protein content" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

 MP:0008309 dilated scala media "stretched or widened aperture of the luminal space of the spirally arranged membranous tube suspended within the cochlea, lying between and separating the scala vestibuli and scala tympani" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0008537 increased susceptibility to induced colitis "increased severity or induction threshold of colitis upon treatment of an organism with intestinal inflammation agents such as dextran sodium sulfate (DSS)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cryba1tm1a(EUCOMM)Hmgu/Cryba1tm1a(EUCOMM)Hmgu
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0009350 decreased urine pH "increased urine acidity" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background: involves: 129S5/SvEvBrd * FVB/N

 MP:0009821 abnormal vestibular aqueduct "an anomaly in the small bony canal that surrounds the endolymphatic duct canal and links the vestibule of the inner ear to the posterior part of the internal surface of the petrous temporal bone" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
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Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0011735 increased urine ammonia level "a greater amount of ammonia in the urine compared to the normal state" [MGI:anna]
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Allelic Composition: Ext1tm1Yama/Ext1tm1Yama,Tg(Col2a1-cre/ERT)KA3Smac/0
Genetic Background: involves: 129S5/SvEvBrd * FVB/N

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
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Allelic Composition: Pax6Sey/Pax6Sey
Genetic Background: involves: Swiss

Allelic Composition: Slc26a4tm1Egr/Slc26a4tm1Egr
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Slc26a4pdsm/Slc26a4pdsm
Genetic Background: BXA7/PgnJ-Slc26a4pdsm/J

Allelic Composition: Slc26a4loop/Slc26a4loop
Genetic Background: involves: C3HeB/FeJ

Allelic Composition: Slc26a4tm1.1Dontu/Slc26a4tm1.1Dontu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
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