Human Disease and Mouse Model Detail

Human Disease

Term: Vitamin D-Dependent Rickets, Type 2A; VDDR2A
OMIM ID: 277440

Synonyms

Generalized Resistance to 1,25-Dihydroxyvitamin D; Hypocalcemic Vitamin D-Resistant Rickets; HVDRR; Pddr IIA; Pseudovitamin D-Deficiency, Type IIA; Rickets-Alopecia Syndrome; Rickets, Hereditary Vitamin D-Resistant; HVDRR; Vitamin D-Dependent Rickets, Type 2a, with or without Alopecia; Vitamin D-Resistant Rickets with End-Organ Unresponsiveness to 1,25-Dihydroxycholecalciferol

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Vdr

VDR

...both mouse and human orthologous genes.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Vdr^tm1Mbd/Vdr^tm1Mbd		involves: 129S4/SvJae * C57BL/6J	J:99866
Vdr^tm1Mbd/Vdr^tm1Mbd		involves: 129S4/SvJae	J:42815
Vdr^tm1Ska/Vdr^tm1Ska		involves: C57BL/6 * CBA	J:42054, J:83237

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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