Primary Identifier | MGI:6303927 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Scyl1 |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
Project Collection | Beutler Mutagenetix |
description | https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=4030 |
molecularNote | ENU-induced G to T transversion at base pair 5,760,826 (v38) on chromosome 19, or base pair 10,589 in the GenBank genomic region NC_000085. The mutation corresponds to residue 1,551 (c.1551G>T) in the mRNA sequence NM_023912.3 within exon 10 of 17 total exons. The mutation results in a valine to phenylalanine substitution at position 488 (p.V488F) in the SCYL1 protein. |