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| Nomenclature |
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Symbol:
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Vdrtm1Ska
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Name:
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vitamin D receptor;
targeted mutation 1, Shigeaki Kato
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MGI ID: |
MGI:1859929 |
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Synonyms: |
Tokyo VDR-KO, VDR-, Vdr KO, VDRKO, VDR KO |
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Gene:
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Vdr
Location:
Chr15:97854425-97910630 bp, - strand
Genetic Position: Chr15,
53.85 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:42054
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Parent Cell Line:
| TT2 (ES Cell) |
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Strain of Origin:
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(C57BL/6NCrlj x CBA/JNCrlj)F1
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
64 reference(s)
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Analysis Tools
