Human Disease and Mouse Model Detail

Human Disease

Term: Thrombocythemia 1; THCYT1
OMIM ID: 187950

Synonyms

Thrombocytosis 1

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...

Jak2

JAK2

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

Sh2b3	SH2B3
Thpo	THPO

...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 are distinct.¹
Jak2^{tm1(JAK2)Argr}/Jak2⁺ Tg(Mx1-cre)1Cgn/0		3	involves: 129S7/SvEvBrd * C57BL/6 * CBA	J:164539
No similarity to the expected human disease phenotype was found.²
NOT	Jak2^tm1.1Jlvl/Jak2^tm1.1Jlvl		involves: 129S2/SvPas * C57BL/6	J:163497

¹Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
²One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.
³Conditionally targeted allele(s)

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