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Targeted Allele Detail
Symbol: Vdrtm1Rge
Name: vitamin D (1,25-dihydroxyvitamin D3) receptor; targeted mutation 1, Reinhold G Erben
MGI ID: MGI:2183400
Synonyms: VDRdelta
Gene: Vdr  Location: Chr15:97854427-97908296 bp, - strand  Genetic Position: Chr15, 53.85 cM
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+
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
Mutation detailsExon 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)
View phenotypes and curated references for all genotypes (concatenated display).
In Structures Affected by this Mutation: 6 anatomical structures
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:  23 strains or lines available
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:  14 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.13
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