Hps5^ru2-3Btlr

The molecular lesion is a T to C transition at base pair 46,783,469 (v38) on chromosome 7, or base pair 113,685 in the GenBank genomic region NC_000073. The mutation is located within the donor splice site of intron 7, two nucleotides from the previous exon. The gene contains 23 total exons, and multiple processed transcripts have been identified (ENSMUSG00000014418). The effect of this mutation at the cDNA and protein levels is unknown. (J:216049)