Vdr^tm1Rge
Targeted Allele Detail

Summary

• Symbol: Vdr^tm1Rge
• Name: vitamin D (1,25-dihydroxyvitamin D3) receptor; targeted mutation 1, Reinhold G Erben
• MGI ID: MGI:2183400
• Synonyms: VDR^delta
• Gene: Vdr Location: Chr15:97752308-97806177 bp, - strand Genetic Position: Chr15, 53.85 cM
• Alliance: Vdr^tm1Rge page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:77748
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: 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. (J:77748)

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Vdr Mutation: 35 strains or lines available

References

• Original: J:77748 Erben RG, et al., Deletion of deoxyribonucleic Acid binding domain of the vitamin d receptor abrogates genomic and nongenomic functions of vitamin d. Mol Endocrinol. 2002 Jul;16(7):1524-37
• All: 16 reference(s)