| Primary Identifier | MGI:7444110 | Allele Type | Endonuclease-mediated |
| Attribute String | Humanized sequence | Gene | Dnajb4 |
| Strain of Origin | Not Specified | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | CRISPR/Cas9 technology generated a C to A change at position 270 (c.270C>A) resulting in a phenylalanine to leuine substitution at amino acid 90 (p.F90L). This corresponds to the human c.270T>A (p.F90L) variant in the glycine/phenylalanine-rich domain identified in a family with a dominantly inherited distal myopathy. Additionally, two silent mutations were introduced to interrupt the protospacer adjacent motif (PAM) and crRNA sequences, preventing unwanted re-editing of the repaired template. Western blot analysis confirmed expression of protein in quadriceps femoris muscles. |
