Vdr | vitamin D (1,25-dihydroxyvitamin D3) receptor
Physiological systems
18 / 24 physiological systems tested
9 Significantly impacted by the knock-out
Pigmentation Immune system Integument Growth/size/body region Limbs/digits/tail Nervous system Hematopoietic system Behavior/neurological Skeleton
9 No significant impact
6 Not tested
Data collections
Gene metrics:17Significant phenotypes
2Associated diseases
Expression examined in:0Adult tissues
0Embryo tissues
| abnormal coat/hair pigmentation | 5 supporting datasets | Vdrem1(IMPC)Hmgu | homozygote | Early adult | 1.64x10-7 | ||
| decreased startle reflex | 1 supporting dataset | Vdrem1(IMPC)Hmgu | homozygote | Early adult | 4.34x10-5 | ||
| abnormal gait | 1 supporting dataset | Vdrem1(IMPC)Hmgu | homozygote | Early adult | 4.63x10-7 | ||
| decreased locomotor activity | 5 supporting datasets | Vdrem1(IMPC)Hmgu | homozygote | Early adult | 1.05x10-6 | ||
| abnormal head morphology | 1 supporting dataset | Vdrem1(IMPC)Hmgu | homozygote | Early adult | 6.64x10-9 | ||
| tremors | 1 supporting dataset | Vdrem1(IMPC)Hmgu | homozygote | Early adult | 6.13x10-5 | ||
| decreased bone mineral content | 2 supporting datasets | Vdrem1(IMPC)Hmgu | homozygote | Early adult | 0 | ||
| decreased bone mineral density | 1 supporting dataset | Vdrem1(IMPC)Hmgu | homozygote | Early adult | 0 | ||
| abnormal bone structure | 1 supporting dataset | Vdrem1(IMPC)Hmgu | homozygote | Early adult | 0 | ||
| abnormal locomotor behavior | 1 supporting dataset | Vdrem1(IMPC)Hmgu | homozygote | Early adult | 3.07x10-6 |
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Human diseases caused by Vdr mutations
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
External links
No external links available for Vdr.
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| Vdrem1(IMPC)Hmgu | Exon Deletion | | mouse |
| Vdrtm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector ES Cell |
| Vdrtm1e(KOMP)Wtsi | Targeted, non-conditional allele | | ES Cell |
| Vdrtm44836(L1L2_gt2) | KO first allele (reporter-tagged insertion with conditional potential) | | targeting vector |