Primary Identifier | MGI:6198347 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Adamts20 |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
Project Collection | Beutler Mutagenetix |
molecularNote | ENU-induced G to T transversion at base pair 94,347,670 (v38) on chromosome 15, or base pair 84,405 in the GenBank genomic region NC_000081. The mutation corresponds to residue 2,011 in the mRNA sequence NM_177431 (isoform 1) within exon 12 of 39 total exons. The mutation results in substitution of glutamic acid 584 for a premature stop codon (E584*) in both Adamts20 protein variants. |