Primary Identifier | MGI:1857090 | Allele Type | Spontaneous |
Gene | Whrn | Inheritance Mode | Recessive |
Strain of Origin | STOCK a Tyrp1<b> Myo5a<d> Oca2<p> Ednrb<s> | Is Recombinase | false |
Is Wild Type | false |
description | They have defects of the membranous labyrinth similar to those of Myo15 (M.S. Deol, personal communication). |
molecularNote | The mutation was identified as a 526 bp deletion encompassing the first putative methionine of the short C-terminal isoform and part of the long isoform. This creates a frameshift resulting in premature termination of the long isoform before the third PDZ domain. This deletion encompasses the majority of exons 6-10 of the gene, thus resulting in the ablation of both the long (WHRN-L) and the short (WHRN-S) isoforms. |