Vdr^tm1Mbd
Targeted Allele Detail

Summary

• Symbol: Vdr^tm1Mbd
• Name: vitamin D (1,25-dihydroxyvitamin D3) receptor; targeted mutation 1, Marie B Demay
• MGI ID: MGI:2183404
• Synonyms: VDR -, VDR-KO, VDRKO
• Gene: Vdr Location: Chr15:97752308-97806177 bp, - strand Genetic Position: Chr15, 53.85 cM
• Alliance: Vdr^tm1Mbd page

Alopecia in 3.5 month old Vdr^tm1Mbd/Vdr^tm1Mbd (right) mice

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

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:42815
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A 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)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	23 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Vdr^tm1Mbd

Find Mice (IMSR)

• 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: 36 strains or lines available

References

• 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: 146 reference(s)