Ifnar1^m2Btlr

Sequencing of the causative mutated gene identified a C to T transition at base pair 91499537 (v38) on Chromosome 16 in the GenBank genomic region NC_000082 encoding Ifnar1. The mutation corresponds to residue 1054 in the mRNA sequence (NM_010508.2) within exon 7 of 11 total exons. The mutation results in a glutamine (Q) to premature stop codon (*) substitution at residue 309. (J:198556)