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Symbol
Name
ID
Chchd10
coiled-coil-helix-coiled-coil-helix domain containing 10
MGI:2143558
Phenotype annotations related to homeostasis/metabolism
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Increased mitochondrial number
Decreased activity of mitochondrial complex II
Decreased activity of mitochondrial complex III
Decreased activity of mitochondrial complex IV
Elevated circulating creatine kinase concentration
Mildly elevated creatine kinase
Increased circulating lactate concentration
Increased intramyocellular lipid droplets
Exercise intolerance
Disease(s) Associated with CHCHD10
isolated mitochondrial myopathy
spinal muscular atrophy, Jokela type

Mouse Phenotypes
homeostasis/metabolism phenotype
impaired exercise endurance
increased circulating creatinine level
increased blood urea nitrogen level
increased circulating phosphate level
increased circulating potassium level
Availability Mouse Genotype
Chchd10em1(IMPC)H/Chchd10em1(IMPC)H
Chchd10em1(IMPC)Mbp/Chchd10em1(IMPC)Mbp
Chchd10em3Dpn/Chchd10em3Dpn *
Chchd10em8Lutzy/Chchd10em8Lutzy
Chchd10em8Lutzy/Chchd10+

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory