Phenotypes associated with this allele

• Allele Symbol: Pnpla8^tm1Rigr
• Allele Name: targeted mutation 1, Richard W Gross
• Allele ID: MGI:3769265
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pnpla8^tm1Rigr/Pnpla8^tm1Rigr	involves: 129X1/SvJ	MGI:7439523
hm2	Pnpla8^tm1Rigr/Pnpla8^tm1Rigr	involves: 129X1/SvJ * C57BL/6J	MGI:3769267

Genotype
MGI:7439523

hm1

• Allelic Composition: Pnpla8^tm1Rigr/Pnpla8^tm1Rigr
• Genetic Background: involves: 129X1/SvJ

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

mortality/aging

premature death ( J:333442 )

• up to 600 days

liver/biliary system

decreased liver triglyceride level ( J:333442 )

• in mice fed a methionine/choline-deficient diet

growth/size/body

postnatal growth retardation ( J:333442 )

• over 100 days

homeostasis/metabolism

decreased circulating glucose level ( J:333442 )

decreased circulating triglyceride level ( J:333442 )

decreased choline level ( J:333442 )

• reduced hepatic levels of GPC, choline, betaine, and S-adenosylme-thionine

decreased liver triglyceride level ( J:333442 )

• in mice fed a methionine/choline-deficient diet

Genotype
MGI:3769267

hm2

• Allelic Composition: Pnpla8^tm1Rigr/Pnpla8^tm1Rigr
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:128989 )

• mice are more susceptible to sudden death than wild-type mice following transverse aortic constriction (6 of 8 mice die within 24 hours compared to 100% survival among wild-type and sham-treated mice)

prenatal lethality, incomplete penetrance ( J:128989 )

• 24% fewer than expected female mice are born

growth/size/body

decreased body weight ( J:128989 )

• mice weigh 9% less than wild-type mice (at 28 days, 8.78+/-0.4 g compared to 10.95+/-0.2 g for wild-type mice and maintain a lower weight through day 50 (at 228 days, 22.2+/-0.4 g compared to 34.1+/-3.1 g for wild-type mice)

• at day 255 female mice weight 21.4+/-1.1 g compared to 31.2+/-5.2 g for wild-type mice

slow postnatal weight gain ( J:128989 )

• mice fail to gain weight after adolescence is reached unlike wild-type mice

decreased body length ( J:128989 )

• male mice exhibit a 9% decrease in body length (9.3+/-0.1 cm compared to 10.0+/-0.1 com for wild-type mice)

homeostasis/metabolism

impaired exercise endurance ( J:128989 )

• at day 53 exercise tolerance is reduced 50% and progressively decreases with age

impaired adaptive thermogenesis ( J:128989 )

• mice exhibit cold intolerance with lowered endurance time at 4 degrees Celsius

decreased body temperature ( J:128989 )

• mice exhibit a 0.5 degree lower body temperature than wild-type mice (males, 35.7+/-0.1 degree Celsius compared to 36.3+/-0.1 degree Celsius for wild-type mice; females, 36.4+/-0.1 degrees Celsius compared to 36.8+/-0.1 degrees Celsius for wild-type mice)

cellular

abnormal aerobic respiration ( J:128989 )

• mitochondrial oxygen consumption is decreased 65% compared to in wild-type

abnormal mitochondrial physiology ( J:128989 )

• mitochondrial function is reduced

behavior/neurological

impaired exercise endurance ( J:128989 )

• at day 53 exercise tolerance is reduced 50% and progressively decreases with age