Phenotypes Associated with This Genotype

Genotype
MGI:5606285

• Allelic Composition: mt-Tk^m1
• Genetic Background: involves: C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

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

cellular

absent oocytes ( J:206827 )

♀ • absence of oocytes with more than 85% mutant mtDNA

abnormal respiratory electron transport chain ( J:206827 )

• in skeletal muscle and kidney from mice with a high but not low or medium proportion of mutant mtDNA

• decrease of activities of mitochondrial complexes II+III and IV in skeletal muscle and IV in kidney

growth/size/body

decreased body length ( J:206827 )

• in mice with a high but not low or medium proportion of mutant mtDNA

muscle

muscle weakness ( J:206827 )

• in mice with a high but not low or medium proportion of mutant mtDNA

reproductive system

absent oocytes ( J:206827 )

♀ • absence of oocytes with more than 85% mutant mtDNA

renal/urinary system

renal/urinary system phenotype ( J:206827 )

N • renal failure is not seen unlike in MERRF (OMIM 545000) patients

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mitochondrial metabolism disease		DOID:700		J:206827