| Primary Identifier | MGI:2183400 | Allele Type | Targeted |
| Attribute String | Null/knockout, Reporter | Gene | Vdr |
| Transmission | Germline | Strain of Origin | (129X1/SvJ x 129S1/Sv)F1-Kitl<+> |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | Exon 2 and part of intron 2 were replaced with a lacZ-PGK-neo cassette via homologous recombination. Unexpectedly, Northern blot analysis of homozygous mutant animals detected a transcript similar to wild-type transcript. RT-PCR and sequence analysis revealed the mutant transcript was deleted for exon 2 and is expressed in all tissues examined. A second start codon in exon 3 predicts a mutant protein lacking the first zinc finger (amino acids 1-51). Western blot analysis and immunohistochemistry revealed the presence of mutant protein in homozygous animals. Competitive binding assays demonstrated the vitamin D-binding ability of the mutant protein. However, the mutant protein lacks DNA-binding activity as shown by gel mobility shift assay. |
