Primary Identifier | MGI:6304952 | 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 |
description | https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3341 |
molecularNote | ENU-induced A to G transition at base pair 98,242,714 (v38) on chromosome 12, or base pair 16,750 in the GenBank genomic region NC_000078 encoding Galc. The mutation corresponds to residue 810 in the NM_008079 mRNA sequence in exon 7 of 17 total exons. The mutation results in an aspartic acid to glycine substitution at position 227 (D227G) in the GALC protein. |