Phenotypes Associated with This Genotype

Genotype
MGI:4834214

• Allelic Composition: mt-Nd6^m2Jiha
• Genetic Background: involves: C3H/An * C57BL/6 * C57BL/6J * CBA

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

abnormal circulating protein level ( J:164405 )

• after glucose loading, mice homoplastic for mitochondria containing the allele exhibit elevated lactate serum levels compared with wild-type mice

lactic acidosis ( J:164405 )

• after glucose loading, mice homoplastic for mitochondria containing the allele exhibit lactic acidosis unlike wild-type mice

cellular

abnormal mitochondrial ATP synthesis coupled electron transport ( J:164405 )

• cells homoplastic for mitochondria containing the allele exhibit decreased respiratory complex I + III activity compared with wild-type cells

• however, production of reactive oxygen species is normal

neoplasm

neoplasm ( J:164405 )

N • at 3 months of age, mice do not exhibit preferential tumor formation

vision/eye

vision/eye phenotype ( J:164405 )

N • at 3 months of age, male mice homoplastic for mitochondria containing the allele exhibit normal optic nerve and retina histology with no signs of Leber's hereditary optic neuropathy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
lactic acidosis		DOID:3650		J:164405