| Primary Identifier | MGI:6760662 | Allele Type | Endonuclease-mediated |
| Attribute String | Humanized sequence | Gene | Syce1 |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | CRISPR/Cas9 technology generated a C to T change at position 727 (c.727C>T) that corresponds to the human c.721C>T familial mutation first reported in two sisters with primary amenorrhea. While this nonsense mutation is predicted to result in a truncated protein, qRT-PCR shows decreased transcript levels and Western blot analysis indicates absence of protein in homozygotes. |
