Vdr^tm1Ska
Targeted Allele Detail

Summary

• Symbol: Vdr^tm1Ska
• 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, VDR KO, VDRKO, VDR-null
• Gene: Vdr Location: Chr15:97752308-97806177 bp, - strand Genetic Position: Chr15, 53.85 cM
• Alliance: Vdr^tm1Ska page

Mutation origin

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

Mutation description

• 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)

Disease models

Expression

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)

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: 36 strains or lines available

References

• 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)