Ghr^m1Btlr

The mutation is a T to C transition at base pair 3,388,646 on chromosome 15, corresponding to base pair 194,707 in the GenBank genomic region NC_000081. The mutation is located in the donor splice site of intron 3, two nucleotides from the previous exon in the NM_010284, NM_001048178, and NM_001286370 transcripts; the NM_010284 transcript contains 11 total exons, the NM_001048178 and NM_001286370 transcripts contain 9 total exons. The effect of the mutation at the cDNA and protein level is unknown. One possibility is that aberrant splicing may result in the skipping of the 66 base pair exon 3 and splicing from exon 2 to exon 4. The aberrant splicing would lead to an in-frame deletion of 22 amino acids and coding of one aberrant amino acid (Ser46Gly). (J:221475)