Primary Identifier | MGI:6283577 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Dsg2 |
Inheritance Mode | Other (see notes) | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
Project Collection | Beutler Mutagenetix |
description | Inheritance is unknown/not applicable. https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3736 |
molecularNote | ENU-induced T to A transversion at base pair 20,582,939 (v38) on chromosome 18, or base pair 24,866 in the GenBank genomic region NC_000084 encoding Dsg2. The mutation corresponds to residue 1,057 in the mRNA sequence NM_007883 within exon 8 of 15 total exons. The mutation results in substitution of tyrosine 282 for a premature stop codon (Y282*) in the DSG2 protein. |