Human Disease and Mouse Model Detail

Human Disease

Term: Parkinson Disease, Mitochondrial
OMIM ID: 556500

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...

Slc6a3	SLC6A3
Tfam	TFAM

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

Transgenes and
other mutation types

Tg(Th-Peo1*,-EGFP)2Gcor

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 diseases where etiology is unknown or involving genes where ortholog is unknown.¹
Slc6a3^tm1(cre)Lrsn/Slc6a3⁺ Tfam^tm1Lrsn/Tfam^tm1Lrsn	3	involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL	J:119515
Models involving transgenes or other mutation types.²
Tg(Th-Peo1*,-EGFP)2Gcor/0		involves: C57BL/6J	J:188914

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.
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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