Primary Identifier | MGI:6283500 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Elmo1 |
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=4104 |
molecularNote | ENU-induced G to T transversion at base pair 20,572,446 (v38) on chromosome 13, or base pair 481,940 in the GenBank genomic region NC_000079 encoding Elmo1. The mutation corresponds to residue 2,041 in the mRNA sequence NM_080288 within exon 18 of 22 total exons. The mutation results in an arginine to leucine substitution at position 568 (R568L) in the ELMO1 protein. |