Human Disease and Mouse Model Detail

Human Disease

Term: Mitochondrial Complex IV Deficiency
OMIM ID: 220110

Synonyms

COX Deficiency; Cytochrome C Oxidase Deficiency

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...

Cox10	COX10
Sco2	SCO2

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

Coa5	COA5
Cox14	COX14
Cox6b1	COX6B1
Fastkd2	FASTKD2

...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
Cox10^tm1Ctm/Cox10^tm1Ctm Tg(Camk2a-cre)#Szi/0	2	involves: 129 * C57BL/6 * C57BL/6J * CBA	J:188773
Sco2^tm1.1Easc/Sco2^tm2.1Easc		129X1/SvJ-Sco2^tm1.1Easc/Sco2^tm2.1Easc	J:155116

¹Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
²Conditionally 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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