Primary Identifier | MGI:5563089 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | Clcn7 |
Transmission | Germline | Strain of Origin | 129S2/SvPas |
Is Recombinase | false | Is Wild Type | false |
molecularNote | Exon 7 with a G to A transition at position 14365 resulting in a glycine to arginine amino acid substitution at position 213 (G213R), mimicking a dominant mutation found in autosomal dominant osteopetrosis type 2 (ADO2) patients, was flanked by loxP sites. An frt flanked neo cassette was inserted downstream of exon 7 and was removed by flp mediated recombination. |