Primary Identifier | MGI:7541266 | Allele Type | Endonuclease-mediated |
Attribute String | Humanized sequence | Gene | Wls |
Strain of Origin | Not Specified | Is Recombinase | false |
Is Wild Type | false |
molecularNote | CRISPR/Cas9 technology generated a tyrosine to cysteine substitution at amino acid 478 (p.Y478C). This is a pathogenic variant identified in children with Zaki syndrome consisting of multiorgan defects, microcephaly and facial dysmorphism. |