Primary Identifier | MGI:7367589 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | Col3a1 |
Transmission | Germline | Strain of Origin | 129S2/SvPas |
Is Recombinase | false | Is Wild Type | false |
molecularNote | An FRT-flanked pgk-neo cassette was inserted upstream of exon 6 and a copy of exon 6 with a G to A mutation at position 547 resulting in an G to R substitution at amino acid 182 was inserted via homologous recombination. Flp mediated recombination removed the pgk-neo cassette. The mutation in exon 6 is homologous to the most common type of COL3A1 disease-causing genetic variant in human Vascular Ehlers-Danlos syndrome patients. |