Primary Identifier | MGI:6286325 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Ctsl |
Inheritance Mode | Semidominant | 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=3995 |
molecularNote | ENU-induced A to T transversion at base pair 64,366,623 (v38) on chromosome 13, or base pair 4,126 in the GenBank genomic region NC_000079. The mutation corresponds to residue 936 in the mRNA sequence NM_009984 within exon 6 of 8 total exons. The mutation results in substitution of arginine (R) 214 for a premature stop codon (R214*) in the CTSL protein. |