Human Disease and Mouse Model Detail

Human Disease

Term: Osteoporosis
OMIM ID: 166710

Synonyms

Bone Mineral Density Quantitative Trait Locus; BMND; Osteoporosis, Postmenopausal

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.

Id4	ID4
Irak3	IRAK3
Ly6a	none identified

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Calcr	CALCR
Col1a1	COL1A1
Col1a2	COL1A2
Lrp5	LRP5
Pdlim4	PDLIM4

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Vdr^tm1Ska/Vdr^tm1Ska		involves: C57BL/6 * CBA	J:83237
Models with phenotypic similarity to human disease where etiologies are distinct.²
Id4^tm1Fsky/Id4^tm1Fsky		involves: 129P2/OlaHsd	J:162236
Irak3^tm1Flv/Irak3^tm1Flv		involves: 129S1/Sv * C57BL/6	J:98035
Ly6a^tm1Pmf/Ly6a^tm1Pmf		C.129P2-Ly6a^tm1Pmf	J:83409

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human genes are associated with this disease. Mouse model genotypes do not 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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