Human Disease and Mouse Model Detail

Human Disease

Term: Barth Syndrome; BTHS
OMIM ID: 302060

Synonyms

3-methylglutaconic Aciduria, Type II; MGCA2; Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria; Mga, Type II; MGA2

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...

Fkbp1a	FKBP1A
Mest	MEST

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

TAZ

...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
Fkbp1a^tm1Zuk/Fkbp1a^tm1Zuk		either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)	J:45536
Gt(ROSA)26Sor^{tm37(H1/tetO-RNAi:Taz)Arte}/Gt(ROSA)26Sor⁺		involves: 129S6/SvEvTac * C57BL/6J	J:167527
Gt(ROSA)26Sor^{tm37(H1/tetO-RNAi:Taz)Arte}/?		Not Specified	J:176041
Mest^tm1Masu/Mest⁺		Not Specified	J:79223

¹Human genes are associated with this disease. Mouse model genotypes do not 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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