Primary Identifier | MGI:6268378 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Galc |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
Project Collection | Beutler Mutagenetix |
molecularNote | 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. |