| Primary Identifier | MGI:5896437 | Allele Type | Targeted |
| Attribute String | Humanized sequence | Gene | Col4a1 |
| Transmission | Germline | Strain of Origin | 129S2/SvPas |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | A G to T mutation was engineered in exon 25 to change codon 498 from a glycine to a valine codon (G498V). This mutation mimics one found in some human patients suffering from HANAC (hereditary angiopathy, nephropathy, aneurysms, and muscle cramps) syndrome. The loxP site flanked neomycin resistance gene cassette that was inserted into intron 25 as part of the targeting procedure was removed through cre-mediated recombination. Immunofluorescence experiments show reduced expression from the mutant allele in homozygous mice. |
