Phenotypes Associated with This Genotype

Genotype
MGI:3840342

• Allelic Composition: Mmut^tm1Cpv/Mmut^tm1Cpv
• Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

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

mortality/aging

decreased survivor rate ( J:147313 )

• few mice survive post-weaning

postnatal lethality, incomplete penetrance ( J:147313 )

• Background Sensitivity: a few mice survive post-weaning whereas no mice survive weaning on a congenic C57BL/6 background

homeostasis/metabolism

abnormal blood homeostasis ( J:147313 )

• levels of plasma methylmalonic acid are higher than in wild-type mice

• mice exhibit a decrease in free carnitine, valine, isoleucine, and orinthine, and elevated propionylcarnitine and alanine compared to in wild-type mice

abnormal circulating amino acid level ( J:147313 )

• mice exhibit a decrease in free carnitine, valine, isoleucine, and orinthine, and elevated propionylcarnitine and alanine compared to in wild-type mice

organic aciduria ( J:147313 )

• in one ill mouse, the urine organic acid content is increased compared to in wild-type mice

endocrine/exocrine glands

abnormal pancreas morphology ( J:147313 )

• in older mice, pancreatic cells show megamitochondria compared to in wild-type cells

abnormal exocrine pancreas morphology ( J:147313 )

• in older mice, exocrine pancreatic cells exhibit fewer zymogen granules than in wild-type cells

abnormal pancreatic beta cell morphology ( J:147313 )

• in older mice, beta cells have fewer insulin granules than in wild-type cells

renal/urinary system

organic aciduria ( J:147313 )

• in one ill mouse, the urine organic acid content is increased compared to in wild-type mice

tubulointerstitial nephritis ( J:147313 )

• tubulointerstitial inflammation in older mice

abnormal proximal convoluted tubule morphology ( J:147313 )

• beginning on day 7, cells within the proximal convoluted tubules exhibit megamitochondria with underdeveloped cristae and peculiar lamellations unlike in wild-type cells

liver/biliary system

abnormal hepatocyte mitochondrial morphology ( J:147313 )

• hepatocyte mitochondrial become enlarged and exhibit dysmorphic cristae, intramitochondrial lamellar inclusion body formation, and a less electron-dense matrix compared to in wild-type cells

hepatic steatosis ( J:147313 )

• the number and size of lipid droplets in hepatocytes is increased compared to in wild-type mice

cellular

abnormal hepatocyte mitochondrial morphology ( J:147313 )

• hepatocyte mitochondrial become enlarged and exhibit dysmorphic cristae, intramitochondrial lamellar inclusion body formation, and a less electron-dense matrix compared to in wild-type cells

abnormal tricarboxylic acid cycle ( J:147313 )

• citrate synthase activity is decreased in hepatocytes compared to in wild-type cells

abnormal respiratory electron transport chain ( J:147313 )

• complex I + III and complex II + III activities are decreased in hepatocytes compared to in wild-type cells

• COX activity is decreased more than 50% in hepatocytes compared to in wild-type cells

• however, mitochondrial function in skeletal muscle and whole kidney samples is normal

growth/size/body

decreased body weight ( J:147313 )

• mice weigh 66%, 67%, 69%, and 51% of wild-type at 6, 14, 18, and 230 days, respectively

postnatal growth retardation ( J:147313 )

• early and significant

digestive/alimentary system

abnormal exocrine pancreas morphology ( J:147313 )

• in older mice, exocrine pancreatic cells exhibit fewer zymogen granules than in wild-type cells

immune system

tubulointerstitial nephritis ( J:147313 )

• tubulointerstitial inflammation in older mice