Human Disease and Mouse Model Detail

Human Disease

Term: Priapism, Familial Idiopathic
OMIM ID: 176620

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...

Ada	ADA
Arntl	ARNTL

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

Transgenes and
other mutation types

Hba		Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Hbb
Tg(HBA-HBBs)41Paz

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.¹
Ada^tm1Mw/Ada^tm1Mw		involves: 129S7/SvEvBrd * C57BL/6 * FVB/N	J:135978
Arntl^tm1Bra/Arntl^tm1Bra		B6.129-Arntl^tm1Bra	J:191844
Models involving transgenes or other mutation types.²
Hba^tm1Paz/Hba^tm1Paz Hbb^tm1Tow/Hbb^tm1Tow Tg(HBA-HBBs)41Paz/0		involves: 129 * Black Swiss * C57BL/6 * DBA/2 * FVB/N	J:135978

¹The causal human genes for this disease have not been identified. Genotypes may include cases where the mouse structural gene or the human ortholog has not been identified.
²Models involving transgenes or other mutation types may also appear in other sections of the table.

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