Primary Identifier | MGI:6272372 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Smcr8 |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
Project Collection | Beutler Mutagenetix |
molecularNote | T to C transition at base pair 60,778,032 (v38) on chromosome 11, or base pair 508 in the GenBank genomic region NC_000077 encoding Smcr8. The mutation corresponds to residue 508 (c.508T>C) in the mRNA sequence NM_001085440.1 within exon 1 of 2 total exons. The mutation results in an isoleucine (I) to threonine (T) substitution at position 2 (I2T) in the SMCR8 protein (p.I2T). |