Galc^m2Btlr

ENU-induced T to A transversion at base pair 98,259,162 (v38) on chromosome 12, or base pair 302 in the GenBank genomic region NC_000078 encoding Galc. The mutation corresponds to residue 298 in the NM_008079 mRNA sequence in exon 1 of 17 total exons. The mutation results in an aspartic acid to glutamic acid substitution at position 56 (D56E) in the GALC protein. (J:267485)