| Primary Identifier | MGI:7408432 | Allele Type | Endonuclease-mediated |
| Attribute String | Humanized sequence | Gene | Ap2s1 |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | CRISPR/Cas9 technology generated a G to T transversion at position 44 (c.44G>T) within exon 2 resulting in an arginine to leucine substitution at amino acid 15 (p.R15L). In addition, a synonymous substitution, c.G48T (p.Leu16Leu) was introduced to protect from further re-processing. The p.Arg15Leu variant is identified in patients with familial hypocalciuric hypercalcemia 3. |
