Primary Identifier | MGI:7279292 | Allele Type | Endonuclease-mediated |
Attribute String | Not Specified | Gene | Glyr1 |
Is Recombinase | false | Is Wild Type | false |
molecularNote | Using an sgRNA (targeting ATGTATTTCAGGTAGAAGTC) and an ssODN template (AGGTGAGCCTGATACTCGGCGGGCAATTTTCATGTAGATCTTTTAAACTTCTAATGAATGGCTTTCCCTTCTCAGATATCCTACAAGGAAACTTTAAACTGGACTTCTACCTGAAATACATTCAGAAGGATCTCCGCCTCGCCATTGCATTGGGTGATGCAGTCAACCACCCCACTCCCATGGCAGCTGCAGCCAATGAG) with CRISPR/Cas9 technology, proline codon 495 (CCT) was changed to leucine (CTG) (p.P495L). This mutation of the highly conserved proline residue in the beta-hydroxyacid dehydrogenase (betaHAD) domain mimics one found in some congenital heart disease (CHD) patients. |