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Targeted Allele Detail
Symbol: Vdrtm1Mbd
Name: vitamin D receptor; targeted mutation 1, Marie B Demay
MGI ID: MGI:2183404
Synonyms: VDR -, VDRKO, VDR-KO
Gene: Vdr  Location: Chr15:97854425-97910630 bp, - strand  Genetic Position: Chr15, 53.85 cM
3.5 month old +/+ wildtype (left), Vdrtm1Mbd/+ (center) and Vdrtm1Mbd/Vdrtm1Mbd (right).

Show the 3 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:42815
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 5 kb region of the gene encompassing exon 3 was replaced with a PGK-neo cassette via homologous recombination resulting in deletion of the second zinc finger of the DNA-binding domain. RT-PCR analysis of intestines and kidneys from homozygous mutant animals detected a mutant transcript. Sequence analysis revealed a 131 bp deletion corresponding to the second zinc finger and results in a frameshift and nonsense codon 12 bp downstream. (J:42815)
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Vdr Mutation:  6 strains or lines available
Original:  J:42815 Li YC, et al., Targeted ablation of the vitamin D receptor: an animal model of vitamin D-dependent rickets type II with alopecia. Proc Natl Acad Sci U S A. 1997 Sep 2;94(18):9831-5
All:  77 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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