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Symbol
Name
ID
Vdr
vitamin D (1,25-dihydroxyvitamin D3) receptor
MGI:103076
Phenotype annotations related to muscle
Darker colors indicate more annotations
Human Phenotypes
Foot dorsiflexor weakness
Lower limb muscle weakness
Upper limb muscle weakness
Spasticity
Hypotonia
Generalized hypotonia
Difficulty standing
Difficulty walking
Muscle spasm
Muscle weakness
Abdominal wall muscle weakness
Fatigable weakness of bulbar muscles
Fatigable weakness of swallowing muscles
Fatigable weakness of respiratory muscles
Generalized muscle weakness
Skeletal muscle atrophy
Progressive distal muscular atrophy
Progressive spinal muscular atrophy
Disease(s) Associated with VDR
amyotrophic lateral sclerosis
Fabry disease
Graves' disease
vitamin D-dependent rickets type 2A

Mouse Phenotypes
increased myocardial fiber size
Availability Mouse Genotype
Vdrtm1.1Sgcg/Vdrtm1.2Sgcg
Myl2tm1(cre)Krc/Myl2+  (conditional)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Funding Information
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last database update
05/07/2024
MGI 6.23
The Jackson Laboratory