| Primary Identifier | MGI:7444804 | Allele Type | Endonuclease-mediated |
| Attribute String | Humanized sequence, Hypomorph | Gene | Lemd2 |
| Strain of Origin | (C57BL/6 x C3H)F2 | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | CRISPR/Cas9 technology generated a T to G change at position 38 (c.T38>G) resulting in a leucine to arginine substitution at codon 13 (p.L13R). A silent mutation (c.G24>A) was also engineered to prevent recutting after editing. This is a variant found in patients with cardiomyopathy. RT-qPCR showed reduced mRNA levels and Western blot analysis showed that protein levels of both isoforms are reduced and that both isoforms display a greater size. |
