| Primary Identifier | MGI:6287464 | Allele Type | Targeted |
| Attribute String | Conditional ready, Null/knockout | Gene | Clcn7 |
| Transmission | Germline | Strain of Origin | 129P2/OlaHsd |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | Two versions of exon 2, a wild-type and an inverted mutated exon 7 with a G to A transition at position 14365G leading to a arginine substation for the glycine at amino acid 213 were introduced in a head-to-head orientation which were flanked by the head-to-head lox71 and loxKR3 sites and separated by an frt-flanked neomycin cassette. This mutation corresponds to the most common mutation, p.Gly215>Arg in patients with ADO2. Flp-mediated recombination removed the neomycin cassette. The mutation can be activated by stable inversion of the two exons mediated by Cre-recombinase. RT-PCR shows that an alternate transcript lacking exons 7-11 is present. If translated, this would result in an in-frame deletion of 129 amino acid residues. |
