Human Disease and Mouse Model Detail

Human Disease

Term: Polycythemia Vera
OMIM ID: 263300

Synonyms

Polycythemia Rubra Vera; PRV; PV

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

...both mouse and human orthologous genes.

Dcc

DCC

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

Transgenes and
other mutation types

Tg(Vav1-JAK2*V617F)AZjz

Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Jak2^tm1.1Jlvl/Jak2^tm1.1Jlvl		involves: 129S2/SvPas * C57BL/6	J:163497
Jak2^tm1.2Ble/Jak2⁺		involves: 129S6/SvEvTac * C57BL/6 * FVB/N	J:160883
Jak2^tm1Mohi/Jak2⁺ Tg(Mx1-cre)1Cgn/0	4	involves: C57BL/6 * CBA	J:183821
Jak2^tm1Mohi/Jak2^tm1Mohi Tg(Mx1-cre)1Cgn/0	4	involves: C57BL/6 * CBA	J:183821
Models with phenotypic similarity to human disease where etiologies are distinct.²
Dcc^{Tg(H2-K^b-Jak2*V617F)1Shmd}/Dcc⁺		involves: C57BL/6 * DBA/2	J:130189
Models involving transgenes or other mutation types.³
Tg(Vav1-JAK2*V617F)AZjz/0		involves: C57BL/6 * DBA/2	J:135993

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.
³Models involving transgenes or other mutation types may also appear in other sections of the table.
⁴Conditionally 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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