Primary Identifier | MGI:6283557 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Dsg2 |
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=2959 |
molecularNote | ENU-induced T to A transversion at base pair 20,580,651 (v38) on chromosome 18, or base pair 22,578 in the GenBank genomic region NC_000084 encoding DSG2. The mutation corresponds to residue 889 in the mRNA sequence NM_007883 within exon 6 of 15 total exons. The mutation results in substitution of tyrosine 226 for a premature stop codon (Y226*) in the DSG2 protein. |