Phenotypes Associated with This Genotype

Genotype
MGI:3046848

• Allelic Composition: Polg^tm1.1Lrsn/Polg^tm1.1Lrsn
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

premature death ( J:91077 )

• the median life span is about 48 weeks with no homozygotes living beyond 61 weeks of age

adipose tissue

decreased subcutaneous adipose tissue amount ( J:91077 )

• by 40 weeks subcutaneous fat is significantly decreased

decreased total body fat amount ( J:91077 )

• by 40 weeks body fat is significantly decreased

cardiovascular system

abnormal myocardial fiber morphology ( J:91077 )

• some cardiomyocytes have a vacuolated appearance resulting from accumulation of enlarged mitochondria

increased heart weight ( J:91077 )

• heart weight in relation to body weight is increased by 12 weeks of age

dilated heart left ventricle ( J:91077 )

• the lumen of the left ventricle is enlarged

cellular

azoospermia ( J:91077 )

♂ • at 40 weeks of age no sperm are seen

oligozoospermia ( J:91077 )

♂ • at 12 weeks the sperm content in the epididymis is reduced

increased mitochondrial size ( J:91077 )

• an increase in mitochondrial mass in some cardiomyocytes

abnormal mitochondrial ATP synthesis coupled electron transport ( J:91077 )

• progressive reduction in respiratory chain enzyme activities and ATP production is seen in the heart

endocrine/exocrine glands

seminiferous tubule degeneration ( J:91077 )

♂ • at 40 weeks of age tubular degeneration is seen

small testis ( J:91077 )

♂ • at 12 weeks of age the testes are considerably smaller compared to wild-type males

growth/size/body

increased heart weight ( J:91077 )

• heart weight in relation to body weight is increased by 12 weeks of age

weight loss ( J:91077 )

• weight gain decreases from around 15 - 20 weeks of age and weight loss is noted around 24 weeks of age

hematopoietic system

hypochromic macrocytic anemia ( J:91077 )

• macrocytic and hypochromic anemia is seen at 25 weeks of age

decreased hemoglobin content ( J:91077 )

• significantly lower hemoglobin concentration in the peripheral blood is seen at 25 weeks of age

muscle

abnormal myocardial fiber morphology ( J:91077 )

• some cardiomyocytes have a vacuolated appearance resulting from accumulation of enlarged mitochondria

reproductive system

azoospermia ( J:91077 )

♂ • at 40 weeks of age no sperm are seen

oligozoospermia ( J:91077 )

♂ • at 12 weeks the sperm content in the epididymis is reduced

seminiferous tubule degeneration ( J:91077 )

♂ • at 40 weeks of age tubular degeneration is seen

small testis ( J:91077 )

♂ • at 12 weeks of age the testes are considerably smaller compared to wild-type males

reduced female fertility ( J:91077 )

♀ • females reproduce normally before the age of 20 weeks after which they fail to become pregnant

reduced male fertility ( J:91077 )

♂ • males rarely sire litters

skeleton

kyphosis ( J:91077 )

• at about 25 weeks of age slight kyphosis develops which becomes more severe with age

osteoporosis ( J:91077 )

• a reduction in bone mineral content, bone mineral density, and bone mineral content per length of the femur are seen at 40 weeks of age

integument

decreased subcutaneous adipose tissue amount ( J:91077 )

• by 40 weeks subcutaneous fat is significantly decreased

alopecia ( J:91077 )

• at about 25 weeks of age slight alopecia develops which becomes more severe with age