Fgf5^m2Btlr

Capillary sequencing of the mutated gene identified a C to T transition at base pair 98261987 (v38) on chromosome 5 in the GenBank genomic region NC_000071 encoding Fgf5 (LOD = 4.56). The mutation corresponds to residue 394 in the mRNA sequence in exon 2 of 3 total exons. The mutation results in a substitution of arginine (R) to a premature stop codon at residue 132, and may cause nonsense-mediated decay of the transcript. (J:195411)