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| Nomenclature |
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Symbol:
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Vdrtm1Mbd
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Name:
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vitamin D receptor;
targeted mutation 1, Marie B Demay
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MGI ID: |
MGI:2183404 |
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Synonyms: |
VDR -, 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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3.5 month old +/+ wildtype (left), Vdrtm1Mbd/+ (center) and Vdrtm1Mbd/Vdrtm1Mbd (right).
Show the 3 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:42815
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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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 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)
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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: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
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All: |
66 reference(s)
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Analysis Tools
