Primary Identifier | MGI:6283613 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Pappa2 |
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=3805 |
molecularNote | ENU-induced C to T transition at base pair 158,857,136 (v38) on chromosome 1, or base pair 123,392 in the GenBank genomic region NC_000067. The mutation corresponds to residue 2,432 in the mRNA sequence NM_001085376 within exon 4 of 22 total exons. The mutation results in a threonine to isoleucine substitution at position 811 (T811I) in the PAPP-A2 protein. |