Homozygous mutation of this gene results in renal dysfunction, progressive deafness, and progressive demylination of the peripheral nerves. Mutant animals show a 2-fold increased water consumption along with increased urine volume, and develop an enlarged, ball-like trunk with age.
|VEGA Gene Model||OTTMUSG00000055604 (Evidence)|
|Ensembl Gene Model||ENSMUSG00000029426 (Evidence)|
|Entrez Gene||12492 (Evidence)|
|DFCI||TC1577821, TC1598432, TC1612711|
|NIA Mouse Gene Index||U026412|
|Consensus CDS Project||CCDS19431.1|
|International Mouse Phenotyping Consortium Status||Scarb2|
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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