| Primary Identifier | MGI:6294718 | Allele Type | Targeted |
| Attribute String | Humanized sequence | Gene | Nkx2-5 |
| Transmission | Germline | Strain of Origin | Not Specified |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | A CGT to GGT point mutation was inserted in exon 2 resulting in a homeodomain missense mutation in which an arginine was changed to a glycine at amino acid 188 which corresponds to homeodomain position 52 (R52G). A floxed neomycin resistance gene was also inserted downstream of exon 2 and removed via cre-mediated recombination. Western blot analysis confirmed protein expression. This is a mutation identified in patients with familial congenital heart disease. |
