Primary Identifier | MGI:7707395 | Allele Type | Endonuclease-mediated |
Attribute String | Humanized sequence | Gene | Akap4 |
Strain of Origin | C57BL/6J | Is Recombinase | false |
Is Wild Type | false |
molecularNote | CRISPR/Cas9 technology generated a CGT to CAT change resulting in an arginine to histidine substitution at amino acid 428 (p.R428H). This corresponds to the pathogenic p.R429H variant identified in two siblings with non-obstructive azoospermia. Protein levels are reduced in the testes. |