Phenotypes associated with this allele

• Allele Symbol: Pptc7^em2Pagd
• Allele Name: endonuclease-mediated mutation 2, David J Pagliarini
• Allele ID: MGI:6143811
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pptc7^em2Pagd/Pptc7^em2Pagd	C57BL/6J-Pptc7^em2Pagd	MGI:7645686

Genotype
MGI:7645686

hm1

• Allelic Composition: Pptc7^em2Pagd/Pptc7^em2Pagd
• Genetic Background: C57BL/6J-Pptc7^em2Pagd

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

mortality/aging

neonatal lethality, complete penetrance ( J:277086 )

• born at Mendelian frequencies but fail to survive the perinatal transition

homeostasis/metabolism

decreased circulating ketone body level ( J:277086 )

• hypoketotic with an approximately 3.5 fold decrease in serum ketones

increased circulating lactate level ( J:277086 )

• serum lactate levels are over 5mM

abnormal glucose homeostasis ( J:277086 )

• decreased glucose levels in the liver

hypoglycemia ( J:277086 )

• median blood glucose of 47 mg/dl compared to 77 mg/dl in controls

• however, insulin levels are unchanged from controls

liver/biliary system

abnormal liver morphology ( J:277086 )

• decreased glucose levels and increased pyruvate and lactate levels

• increase in levels of amino acids whose catabolism occurs in mitochondria

abnormal hepatocyte mitochondrial morphology ( J:277086 )

• smaller

cardiovascular system

abnormal heart morphology ( J:277086 )

• increase in levels of amino acids whose catabolism occurs in mitochondria

abnormal myocardial fiber mitochondrial morphology ( J:277086 )

• smaller

cellular

abnormal myocardial fiber mitochondrial morphology ( J:277086 )

• smaller

abnormal hepatocyte mitochondrial morphology ( J:277086 )

• smaller

abnormal mitochondrial physiology ( J:277086 )

• decreased citrate synthase activity and reduced coenzyme Q levels

• differences are not seen when normalized to total mitochondrial protein content

abnormal mitochondrial biogenesis ( J:277086 )

• expression analysis in the heart and liver indicate defects in mitochondrial biogenesis

growth/size/body

decreased birth weight ( J:277086 )

decreased fetal weight ( J:277086 )

muscle

abnormal myocardial fiber mitochondrial morphology ( J:277086 )

• smaller