Primary Identifier | MGI:6303944 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Lrba |
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=1571 |
molecularNote | C to T transition at base pair 86,350,304 (v38) on chromosome 3, or base pair 126,401 in the GenBank genomic region NC_000069 encoding Lrba. The mutation corresponds to residue 4,159 (c.4159C>T) in the mRNA sequence NM_030695.2 within exon 24 of 57 total exons. The mutation results in substitution of glutamine 1,292 for a premature stop codon (p.Q1292*) in the LRBA protein. |