Katnal2^m1Anu

The molecular lesion is an A-to-G substitution in codon 86 within exon3, resulting in the substitution of tyrosine (TAC) to cysteine (TGC) in the encoded protein. qPCR analysis of mRNA transcript levels in whole testis homogenates revealed no difference between homozygous mutant mice and wild-type controls. However, Western blot analysis of the 46 kDa isoform in whole testis homogenates revealed that protein expression is reduced to 41% of wild-type levels. (J:250115)