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

Symbol:	Vdrtm1Ska
Name:	vitamin D (1,25-dihydroxyvitamin D3) receptor; targeted mutation 1, Shigeaki Kato
MGI ID:	MGI:1859929
Synonyms:	Tokyo VDR-KO, VDR-, VDR-, Vdr KO, VDRKO, VDR KO, VDR-null
Gene:	Vdr  Location: Chr15:97752308-97806177 bp, - strand  Genetic Position: Chr15, 53.85 cM
Alliance:	Vdrtm1Ska page

Germline Transmission:	Earliest citation of germline transmission: J:42054
Parent Cell Line:	TT2 (ES Cell)
Strain of Origin:	(C57BL/6NCrlj x CBA/JNCrlj)F1

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A neomycin resistance gene cassette replaced 1.1kb of sequence containing exon 2, which encodes the first zinc finger of the DNA binding domain. RT-PCR and Western blot analysis of intestinal tissue from homozygous mice detected the presence of a truncated transcript and protein that appears to use M53 in exon 3 as an initiation site. This truncated protein is able to bind ligand but lacks transactivation activity. (J:42054, J:129684)

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

In Mice Carrying this Mutation:	40 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	28 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Vdr Mutation:	35 strains or lines available

Original:	J:42054 Yoshizawa T, et al., Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning. Nat Genet. 1997 Aug;16(4):391-6
All:	91 reference(s)