Phenotypes Associated with This Genotype

Genotype
MGI:3609951

• Allelic Composition: Cox10^tm1Ctm/Cox10^tm1Ctm; Myl1^tm1(cre)Sjb/Myl1⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

mortality/aging

premature death ( J:101747 )

• mutant mice have a shorter life span

• females died younger than males

muscle

abnormal skeletal muscle morphology ( J:101747 )

• showed areas of mitochondrial proliferation and markedly enlarged and swollen mitochondria

• no signs of fibrosis, inflammation, or apoptosis were seen

increased variability of skeletal muscle fiber size ( J:101747 )

• mutant muscle fibers are more heterogeneous in size

decreased skeletal muscle mass ( J:101747 )

• at 3-4 months of age, severe reductions in muscle mass are seen

increased muscle fatigability ( J:101747 )

• maximal force evoked in mutant muscle is significantly smaller

• the muscles from mutant mice are more fatigable than control

myopathy ( J:101747 )

• mutant mice are healthy until approximately 3 months of age then develop a slowly progressive myopathy

• the myopathy starts earlier and worsens quicker in female

growth/size/body

weight loss ( J:101747 )

• at 3-4 months of age, they started to lose weight

• female mutant mice weigh less at an early age

skeleton

kyphosis ( J:101747 )

• starting at 3-4 months of age

behavior/neurological

decreased locomotor activity ( J:101747 )

• starting at 3-4 months of age

• in treadmill performance test, 2-month old mutant mice had difficulty in performing the task

• the female performance was significantly poorer than males

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mitochondrial myopathy		DOID:699	OMIM:251900	J:101747