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Symbol
Name
ID
Mpc1
mitochondrial pyruvate carrier 1
MGI:1915240
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Progressive microcephaly
Encephalopathy
Global developmental delay
Peripheral neuropathy
Seizure
Disease(s) Associated with MPC1
mitochondrial pyruvate carrier deficiency

Mouse Phenotypes
abnormal Muller cell morphology
abnormal retina photoreceptor morphology
abnormal photoreceptor inner segment morphology
abnormal photoreceptor outer segment disc membrane morphology
short photoreceptor outer segment
Availability Mouse Genotype
Mpc1tm1c(EUCOMM)Wtsi/Mpc1tm1c(EUCOMM)Wtsi
Tg(Six3-cre)69Frty/0  (conditional)

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