Phenotypes associated with this allele

• Allele Symbol: Ptcd2^{Gt(RRF537)Byg}
• Allele Name: gene trap RRF537, BayGenomics
• Allele ID: MGI:3830811
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ptcd2^Gt(RRF537)Byg/Ptcd2^Gt(RRF537)Byg	involves: 129P2/OlaHsd * C57BL/6	MGI:3830812

Genotype
MGI:3830812

hm1

• Allelic Composition: Ptcd2^{Gt(RRF537)Byg}/Ptcd2^{Gt(RRF537)Byg}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

cellular

abnormal mitochondrial morphology ( J:143946 )

• in the heart, skeletal muscle, liver and kidney

abnormal mitochondrial ATP synthesis coupled electron transport ( J:143946 )

• the activities of NADH-cytochrroome c reductase (complex I+III) and ubiquinol-cytochrom c reductase (complex III) in the heart, liver, and skeletal muscle are reduced compared to in wild-type tissues

• reduction in cytochrome c reductase and citrate synthase activities is most severe in the heart

• complex III activity is most severely affected

cardiovascular system

abnormal myocardial fiber morphology ( J:143946 )

• mitochondria in the heart are increased in number with disorganized cristae unlike in wild-type mice

• there is a modest increase in the number of subsarcolemmal mitochondria compared to in wild-type mice

myocardial fiber degeneration ( J:143946 )

• mice exhibit focal cardiac myocyte degeneration in the fibrous tissue unlike wild-type mice

abnormal heart ventricle morphology ( J:143946 )

• the outer layers of ventricular cardiomyocytes are infiltrated by macrovesicular fat deposits that have the appearance of adipocytes

thin ventricular wall ( J:143946 )

• the ventricular wall thins and is replaced by fibro-fatty tissue

renal/urinary system

abnormal kidney morphology ( J:143946 )

• some kidneys exhibit proliferation of tubules with enlarged lumina throughout the medulla unlike in wild-type mice

enlarged kidney ( J:143946 )

• 1.4 fold bigger than normal in many mice

abnormal renal tubule morphology ( J:143946 )

• the number of tubules in the cortex and medulla is 1.6-fold more than in wild-type kidneys

• tubules contain pleomorphic mitochondria unlike in wild-type mice

muscle

abnormal myocardial fiber morphology ( J:143946 )

• mitochondria in the heart are increased in number with disorganized cristae unlike in wild-type mice

• there is a modest increase in the number of subsarcolemmal mitochondria compared to in wild-type mice

myocardial fiber degeneration ( J:143946 )

• mice exhibit focal cardiac myocyte degeneration in the fibrous tissue unlike wild-type mice

abnormal sarcolemma morphology ( J:143946 )

• skeletal and heart muscles exhibit an increase in the number of subsarcolemmal mitochondrial with variable cristae compared to in wild-type muscle

liver/biliary system

abnormal liver morphology ( J:143946 )

• mitochondria in the liver are increased in number and have elongated and serpentine appearances with mild alterations in cristae unlike in wild-type mice

growth/size/body

enlarged kidney ( J:143946 )

• 1.4 fold bigger than normal in many mice