Primary Identifier | MGI:7574448 | Allele Type | Endonuclease-mediated |
Attribute String | Not Specified | Gene | Rtel1 |
Inheritance Mode | Not Specified | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
molecularNote | This is a point mutation in Rtel1 that changes codon 492 from methionine to isoleucine. This mutation corresponds to a mutation in RTEL1 in the human disease Hoyeraal-Hreidarsson syndrome (HHS). |