Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Tumor data | Find Mice (IMSR) | References

Symbol: Vdrtm1Mbd Name: vitamin D (1,25-dihydroxyvitamin D3) receptor; targeted mutation 1, Marie B Demay MGI ID: MGI:2183404 Synonyms: VDR -, VDRKO, VDR-KO Gene: Vdr  Location: Chr15:97752308-97806177 bp, - strand  Genetic Position: Chr15, 53.85 cM Alliance: Vdrtm1Mbd page

Alopecia in 3.5 month old Vdrtm1Mbd/Vdrtm1Mbd (right) mice 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 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)

View phenotypes and curated references for all genotypes (concatenated display).

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

List all tumor models in MMHCdb carrying Vdrtm1Mbd

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:	35 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:	144 reference(s)