Phenotypes associated with this allele

• Allele Symbol: Ptcd1^{tm1(KOMP)Vlcg}
• Allele Name: targeted mutation 1, Velocigene
• Allele ID: MGI:4951221
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ptcd1^tm1(KOMP)Vlcg/Ptcd1^tm1(KOMP)Vlcg	C57BL/6N-Ptcd1^tm1(KOMP)Vlcg	MGI:6157835
ht2	Ptcd1^tm1(KOMP)Vlcg/Ptcd1^+	C57BL/6N-Ptcd1^tm1(KOMP)Vlcg	MGI:6157836

Genotype
MGI:6157835

hm1

• Allelic Composition: Ptcd1^{tm1(KOMP)Vlcg}/Ptcd1^{tm1(KOMP)Vlcg}
• Genetic Background: C57BL/6N-Ptcd1^{tm1(KOMP)Vlcg}

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

mortality/aging

embryonic lethality, complete penetrance ( J:256004 )

• no mice are born

• at E8.5 embryos had not developed

Genotype
MGI:6157836

ht2

• Allelic Composition: Ptcd1^{tm1(KOMP)Vlcg}/Ptcd1⁺
• Genetic Background: C57BL/6N-Ptcd1^{tm1(KOMP)Vlcg}

liver/biliary system

abnormal hepatocyte mitochondrial morphology ( J:256004 )

• reduced membrane potential in liver mitochondria of 30-week old mice

• more fragmented appearance of liver mitochondria of 30-week old mice

hepatic steatosis ( J:256004 )

• extensive accumulation of lipid droplets in liver mitochondria of 30-week old mice

liver fibrosis ( J:256004 )

• extensive accumulation of lipid droplets in liver mitochondria of 30-week old mice

• more oval shaped liver progenitor cells in 30-week old mice

• major dividing cell type in regenerating liver are binucleated hepatocytes in 30-week old mice

homeostasis/metabolism

increased circulating leptin level ( J:256004 )

• at age 10 and 30 weeks

increased circulating triglyceride level ( J:256004 )

• at age 30 weeks

• at age 10 weeks

impaired glucose tolerance ( J:256004 )

• at age 15 and 30 weeks

insulin resistance ( J:256004 )

• at age 30 weeks

cardiovascular system

thick interventricular septum ( J:256004 )

• in diastole in adult mice

cardiac hypertrophy ( J:256004 )

• in adult mice

decreased heart left ventricle size ( J:256004 )

• in systole in adult mice

thick ventricular wall ( J:256004 )

• left posterior wall in systole in adult mice

increased cardiac muscle contractility ( J:256004 )

• in adult mice

muscle

increased cardiac muscle contractility ( J:256004 )

• in adult mice

cellular

abnormal hepatocyte mitochondrial morphology ( J:256004 )

• reduced membrane potential in liver mitochondria of 30-week old mice

• more fragmented appearance of liver mitochondria of 30-week old mice

abnormal mitochondrial crista morphology ( J:256004 )

• fewer cristae in liver, and, to lesser extent, heart, mitochondria of 30-week old mice

abnormal mitochondrial physiology ( J:256004 )

• reduced levels of mt-Co1, Elac2, Mrpl37 and Mrpl44 protein in liver mitochondria of 30-week old mice

• reduced levels of Elac2 protein in heart mitochondria of 30-week old mice

• reduced de novo protein synthesis in liver mitochondria of 30-week old mice

• reduced de novo protein synthesis in liver and heart mitochondria of 40-week old mice

• reduced levels of mt-Co2 and mt-Co3 protein in liver and heart mitochondria of 40-week old mice

• increased levels of specific unprocessed and mature mitochondrial mRNAs and tRNA precursor transcripts in liver and heart mitochondria of 30-week old mice

• reduced state 3 and state 4 respiration and maximum respiratory chain capacity in liver mitochondria of 30-week old mice

• reduced state 3 and state 4 respiration and maximum respiratory chain capacity in liver and heart mitochondria of 40-week old mice

• reduced respiratory complex V levels in liver mitochondria of 30-week old mice

• 50% reduction in ATP levels in liver mitochondria of 30-week old mice

abnormal oxidative phosphorylation ( J:256004 )

• reduced state 3 and state 4 respiration and maximum respiratory chain capacity in liver mitochondria of 30-week old mice

• reduced state 3 and state 4 respiration and maximum respiratory chain capacity in liver and heart mitochondria of 40-week old mice

• reduced respiratory complex V levels in liver mitochondria of 30-week old mice

• 50% reduction in ATP levels in liver mitochondria of 30-week old mice

• in 10-week old mice

growth/size/body

cardiac hypertrophy ( J:256004 )

• in adult mice

obese ( J:256004 )

• by age 30 weeks (starting at age 15 weeks)

behavior/neurological

behavior/neurological phenotype ( J:256004 )

N • food intake, appetite and feeding habits between ages 5 and 30 weeks

reproductive system

reproductive system phenotype ( J:256004 )

N • fertile