Primary Identifier | MGI:5565209 | Allele Type | Targeted |
Attribute String | Hypomorph | Gene | Col6a3 |
Inheritance Mode | Dominant | Transmission | Germline |
Strain of Origin | 129/Sv | Is Recombinase | false |
Is Wild Type | false |
molecularNote | A targeting vector was designed to replace exon 16 of the gene with a loxP-flanked neomycin resistance (neo) cassette. Cre-mediated recombination removed the floxed neo cassette. RT-PCR analysis confirmed expression of a truncated transcript with in-frame deletion of six Gly-X-Y repeats; expression is comparable to mRNA from normal mice. The mutant collagen chain forms triple-helical collagen VI molecules with the alpha 1 and 2 chains and is secreted. |