Human Disease and Mouse Model Detail

Human Disease

Term: Erythrocytosis, Familial, 1; ECYT1
OMIM ID: 133100

Synonyms

Erythrocytosis, Autosomal Dominant Benign; Polycythemia, Primary Familial and Congenital; PFCP

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...

Epor

EPOR

...both mouse and human orthologous genes.

Jak2	JAK2
Sh2b3	SH2B3

...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
Epor^tm1.4Jtp/Epor⁺		involves: 129P2/OlaHsd * C57BL/6	J:67205
Epor^tm1.4Jtp/Epor^tm1.4Jtp		involves: 129P2/OlaHsd * C57BL/6	J:67205

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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