Human Disease and Mouse Model Detail

Human Disease

Term: Vitamin D Hydroxylation-Deficient Rickets, Type 1A; VDDR1A
OMIM ID: 264700

Synonyms

1-alpha, 25-Hydroxyvitamin D3 Deficiency, Selective; 1-alpha-Hydroxylase Deficiency; 25-hydroxycholecalciferol-1-Hydroxylase Deficiency; Pddr IA; Pseudovitamin D-Deficiency Rickets, Type IA; PDDR1A; Vitamin D Dependency, Type 1; VDD1; Vitamin D-Dependent Rickets, Type 1a

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...

Cyp27b1

CYP27B1

...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
Cyp27b1^tm1Dgo/Cyp27b1^tm1Dgo		involves: 129S1/Sv * 129X1/SvJ * BALB/c	J:70030
Cyp27b1^tm1Star/Cyp27b1^tm1Star		involves: 129S1/Sv * 129X1/SvJ	5

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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