Phenotypes associated with this allele

• Allele Symbol: Ppargc1b^tm1.1Dpk
• Allele Name: targeted mutation 1.1, Daniel P Kelly
• Allele ID: MGI:3802519
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ppargc1b^tm1.1Dpk/Ppargc1b^tm1.1Dpk	involves: 129X1/SvJ * FVB/N	MGI:3802664
cx2	Ppargc1a^tm1Dpk/Ppargc1a^tm1Dpk Ppargc1b^tm1.1Dpk/Ppargc1b^+	involves: 129X1/SvJ * FVB/N	MGI:3802665
cx3	Ppargc1a^tm1Dpk/Ppargc1a^tm1Dpk Ppargc1b^tm1.1Dpk/Ppargc1b^tm1.1Dpk	involves: 129X1/SvJ * FVB/N	MGI:3802666

Genotype
MGI:3802664

hm1

• Allelic Composition: Ppargc1b^tm1.1Dpk/Ppargc1b^tm1.1Dpk
• Genetic Background: involves: 129X1/SvJ * FVB/N

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

mortality/aging

decreased survivor rate ( J:137598 )

• fewer than expected mice survive to weaning but are normal

postnatal lethality ( J:137598 )

• fewer than expected mice survive to weaning but are normal

adipose tissue

adipose tissue phenotype ( J:137598 )

N • abnormal body temperature regulation, brown adipose tissue displays normal mitochondrial density and ultrastructure

abnormal brown adipose tissue morphology ( J:137598 )

• triglyceride content of brown adipose tissue is increased compared to in wild-type mice

abnormal fat cell morphology ( J:137598 )

• brown adipocytes exhibit increased lipid droplet size and density compared to in wild-type mice

homeostasis/metabolism

impaired exercise endurance ( J:137598 )

• mice exhibit a shorter mean duration in a low-intensity, run-to-exhaustion exercise protocol compared to similarly treated wild-type mice

impaired adaptive thermogenesis ( J:137598 )

• when subjected to a cold environment for 4 hours without food, mice fail to maintain core body temperature to the same degree as similarly treated wild-type mice

decreased triglyceride level ( J:137598 )

• triglyceride content of brown adipose tissue is increased compared to in wild-type mice

muscle

muscle phenotype ( J:137598 )

N • despite reduced mitochondria state 3 respiration rates, mice exhibit normal muscle cellularity and ultrastructure

abnormal muscle physiology ( J:137598 )

• state 3 respiration rates of mitochondria in the soleus muscle are decreased compared to in wild-type mice

cardiovascular system

cardiovascular system phenotype ( J:137598 )

N • despite abnormal skeletal muscle physiology, cardiac development, structure and function are normal

behavior/neurological

impaired exercise endurance ( J:137598 )

• mice exhibit a shorter mean duration in a low-intensity, run-to-exhaustion exercise protocol compared to similarly treated wild-type mice

Genotype
MGI:3802665

cx2

• Allelic Composition: Ppargc1a^tm1Dpk/Ppargc1a^tm1Dpk; Ppargc1b^tm1.1Dpk/Ppargc1b⁺
• Genetic Background: involves: 129X1/SvJ * FVB/N

homeostasis/metabolism

impaired adaptive thermogenesis ( J:137598 )

• mice exhibit reduced capacity to regulate core temperature after 2 hours of cold exposure compared to wild-type and Ppargc1b^tm1.1Dpk homozygotes

Genotype
MGI:3802666

cx3

• Allelic Composition: Ppargc1a^tm1Dpk/Ppargc1a^tm1Dpk; Ppargc1b^tm1.1Dpk/Ppargc1b^tm1.1Dpk
• Genetic Background: involves: 129X1/SvJ * FVB/N

mortality/aging

neonatal lethality, incomplete penetrance ( J:137598 )

• 70% of mice die within 24 hours of birth

postnatal lethality, complete penetrance ( J:137598 )

• all mice die prior to day 14

cardiovascular system

abnormal myocardium layer morphology ( J:137598 )

• mitochondria in heart samples are small and sparse in postnatal ventricular sections compared to in wild-type mice

• after birth, some myocytes are largely or partially devoid of mitochondria, sacomeres and other cellular organelles

• heart cells exhibit a decrease in mitochondrial number and size, abnormal vacuoles and reduced cristae density compared to in wild-type mice

• despite normal myofibrillar volume, cellular mitochondrial and sarcomere volume densities are reduced compared to in wild-type mice

• mitochondria fail to exhibit an increase in mitochondrial density at E17.5 and P0.5 unlike in wild-type mice

• perinatal mitochondrial biogenesis is blocked

abnormal heart development ( J:137598 )

• mice exhibit a general arrest in cardiac maturation

• at P0.5, mice fail to exhibit an increase in cardiac biogenesis observed in wild-type mice

small heart ( J:137598 )

abnormal heart left ventricle morphology ( J:137598 )

• 12 hours after birth, left ventricle diameter is reduced during diastole compared to in wild-type mice

decreased heart left ventricle weight ( J:137598 )

• at 12 hours after birth

abnormal blood circulation ( J:137598 )

• passive and artrial contraction components of diastolic left ventricle filling are uncoupled from systolic left ventricle outflow jet unlike in wild-type mice consistent with intermittent second-degree heart block

• mice exhibit an increase in isovolumic contraction time and isovolumic relaxation time and decreased ejection time compared to wild-type mice

• mice exhibit decreased passive (E) to active (A) ratio and prolonged isovolumic relaxation time consistent with impaired ventricular diastolic relaxation unlike in wild-type mice

decreased cardiac output ( J:137598 )

• despite preservation of left ventricle fractional shortening, cardiac output is reduced compared to in wild-type mice

decreased heart rate ( J:137598 )

• at 12 hours after birth

congestive heart failure ( J:137598 )

adipose tissue

abnormal brown adipose tissue morphology ( J:137598 )

• triglyceride content of brown adipose tissue is increased compared to in wild-type mice

• brown adipose tissue mitochondrial and cristae density are less than in wild-type mice

• brown adipocytes exhibit increased lipid droplet size and density compared to in wild-type mice and single homozygotes

abnormal fat cell morphology ( J:137598 )

• brown adipocytes exhibit increased lipid droplet size and density compared to in wild-type mice and single homozygotes

respiratory system

abnormal pulmonary alveolus morphology ( J:137598 )

• postmortem of mice that die within 24 hours of birth reveal alveolar collapse

• however, alveolar morphology is normal prior to death

respiratory distress ( J:137598 )

• at birth, mice exhibit labored breathing

homeostasis/metabolism

decreased circulating glucose level ( J:137598 )

• modesty lower at birth

decreased triglyceride level ( J:137598 )

• triglyceride content of brown adipose tissue is increased compared to in wild-type mice

growth/size/body

decreased body weight ( J:137598 )

• at birth

muscle

abnormal myocardium layer morphology ( J:137598 )

• mitochondria in heart samples are small and sparse in postnatal ventricular sections compared to in wild-type mice

• after birth, some myocytes are largely or partially devoid of mitochondria, sacomeres and other cellular organelles

• heart cells exhibit a decrease in mitochondrial number and size, abnormal vacuoles and reduced cristae density compared to in wild-type mice

• despite normal myofibrillar volume, cellular mitochondrial and sarcomere volume densities are reduced compared to in wild-type mice

• mitochondria fail to exhibit an increase in mitochondrial density at E17.5 and P0.5 unlike in wild-type mice

• perinatal mitochondrial biogenesis is blocked