| Primary Identifier | MGI:5904771 | Allele Type | Targeted |
| Attribute String | Humanized sequence | Gene | Clcn7 |
| Inheritance Mode | Dominant | Transmission | Germline |
| Strain of Origin | 129 | Is Recombinase | false |
| Is Wild Type | false |
| molecularNote | A nucleotide substitution was created in exon 7, giving rise to a glycine to arginine codon change for codon 213 (p.G213R). This mutation is equivalent to the p.G215R mutation in human, which is associated with autosomal dominant osteopetrosis type II (ADO2). A loxP site flanked neomycin resistance gene cassette that was inserted was subsequently deleted through cre-mediated recombination. |
