Primary Identifier | MGI:6860324 | Allele Type | Endonuclease-mediated |
Attribute String | Humanized sequence | Gene | Hcfc1 |
Strain of Origin | C57BL/6J | Is Recombinase | false |
Is Wild Type | false |
molecularNote | CRISPR/Cas9 technology generated a C to T change at position 344, resulting in an alanine to valine substitution at amino acid 115 (p.A115V). This is the most commonly observed mutation in patients with methylmalonic aciduria and homocystinuria cblX type. |