Phenotypes associated with this allele

• Allele Symbol: Chchd10^em8Lutzy
• Allele Name: endonuclease-mediated mutation 8, Cat Lutz
• Allele ID: MGI:6285502
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Chchd10^em8Lutzy/Chchd10^em8Lutzy	C57BL/6NJ-Chchd10^em8Lutzy/J	MGI:6285655
ht2	Chchd10^em8Lutzy/Chchd10^+	C57BL/6NJ-Chchd10^em8Lutzy/J	MGI:6285656

Genotype
MGI:6285655

hm1

• Allelic Composition: Chchd10^em8Lutzy/Chchd10^em8Lutzy
• Genetic Background: C57BL/6NJ-Chchd10^em8Lutzy/J

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

behavior/neurological

decreased grip strength ( J:272524 )

• decline in forelimb grip strength is more severe in homozygotes than heterozygotes

impaired exercise endurance ( J:272524 )

• exercise intolerance is more severe in homozygotes than heterozygotes

growth/size/body

weight loss ( J:272524 )

• body weight loss is more severe in homozygotes than heterozygotes

homeostasis/metabolism

impaired exercise endurance ( J:272524 )

• exercise intolerance is more severe in homozygotes than heterozygotes

mortality/aging

premature death ( J:272524 )

• shortened lifespan is more severe in homozygotes than heterozygotes

Genotype
MGI:6285656

ht2

• Allelic Composition: Chchd10^em8Lutzy/Chchd10⁺
• Genetic Background: C57BL/6NJ-Chchd10^em8Lutzy/J

hearing/vestibular/ear

increased susceptibility to otitis media ( J:272524 )

• sterile otitis media

• effusion and accumulation of macrophages, neutrophils and degeneration of epithelial cells in tympanic bulla

behavior/neurological

decreased exploration in new environment ( J:272524 )

• decreased exploratory behavior in open-field test is observed at 250 days of age

limb grasping ( J:272524 )

• hind limb clasping is observed in pole descent task at 330 days of age

impaired limb coordination ( J:272524 )

• impaired limb coordination as determined by pole descent task at 330 days of age

decreased grip strength ( J:272524 )

• decline in forelimb grip strength beginning at 260 days

abnormal gait ( J:272524 )

• abnormal gait characterized by widened stance and splayed hind limbs

impaired exercise endurance ( J:272524 )

• exercise intolerance starting at 150 days of age

immune system

increased susceptibility to otitis media ( J:272524 )

• sterile otitis media

• effusion and accumulation of macrophages, neutrophils and degeneration of epithelial cells in tympanic bulla

cardiovascular system

cardiac interstitial fibrosis ( J:272524 )

• prominent cardiac interstitium

cellular

cardiac interstitial fibrosis ( J:272524 )

• prominent cardiac interstitium

abnormal cell nucleus morphology ( J:272524 )

• increased variation of nuclear size in cardiomyocytes

abnormal mitochondrial morphology ( J:272524 )

• matrix swelling, loss of cristae and abnormal membranous structures in cardiac mitochondria

• increased proportion of mitochondria with abnormal vacuoles in soma of motor neurons

• increased number of mitochondria with abnormal structure in sarcomeres

• abnormal mitochondria in TH+ dopaminergic neurons

abnormal mitochondrial crista morphology ( J:272524 )

• loss of cristae in cardiac mitochondria

abnormal mitochondrial matrix morphology ( J:272524 )

• matrix swelling in cardiac mitochondria

increased mitochondrial number ( J:272524 )

• increased proportion of mitochondria in heart

abnormal vacuole morphology ( J:272524 )

• cytoplasmic vacuolization is observed in cardiomyocytes from the atria and ventricles

• vacuoles are well defined, optically empty, and variably sized

• increased proportion of mitochondria with abnormal vacuoles in soma of motor neurons

nervous system

abnormal dopaminergic neuron morphology ( J:272524 )

• abnormal mitochondria in TH+ dopaminergic neurons; no loss of dopaminergic neurons is observed

abnormal motor neuron morphology ( J:272524 )

• increased proportion of mitochondria with abnormal vacuoles in soma of motor neurons

abnormal neuromuscular synapse morphology ( J:272524 )

• loss of innervation of 50% of neuromuscular junction

• loss of complexity and reduced area in neuromuscular junctions

growth/size/body

weight loss ( J:272524 )

• body weight loss beginning at 200 days in females and 125 days in males

homeostasis/metabolism

impaired exercise endurance ( J:272524 )

• exercise intolerance starting at 150 days of age

mortality/aging

premature death ( J:272524 )

• shortened lifespan (344+/-6.7 days)

muscle

abnormal sarcomere morphology ( J:272524 )

• disorganization of sarcomeres, increased number of mitochondria with abnormal structure

abnormal skeletal muscle fiber morphology ( J:272524 )

• myofibers in muscle develop fiber splitting, increased variation in size, atrophic and angular fibers, increased nuclear density, and centrally located nuclei

centrally nucleated skeletal muscle fibers ( J:272524 )

decreased skeletal muscle mass ( J:272524 )

• decrease in muscle mass is observed at 330 days of age

skeleton

kyphosis ( J:272524 )

• severe kyphosis beginning at 200 days in females and 125 days in males