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Targeted Allele Detail
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 KO, VDRKO, VDR KO
Gene: Vdr  Location: Chr15:97854425-97910630 bp, - strand  Genetic Position: Chr15, 53.85 cM
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 detailsA neomycin resistance 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 Met 53 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).
Disease models
In Mice Carrying this Mutation: 40 assay results
Find Mice (IMSR)
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:  17 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:  72 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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last database update
MGI 6.11
The Jackson Laboratory