Rorb^m1Btlr

This mutation, discovered by its observable phenotype among the G3 progeny of an ENU mutagenized male mouse, comprises a T to C transition at position 127846 of the gene (Genbank genomic region NC_000085 for linear genomic DNA sequence). It resides in the third exon of either of the two splice variants, each of which contains ten exons. The mutated base corresponds to nucleotide 864 and nucleotide 330, respectively, of the mRNAs encoding protein isoform 1 and isoform 2. The mutation results in replacement of serine by proline at amino acid 76 (S76P) and amino acid 87 (S87P), respectively, of isoforms 1 and 2. (J:145609)