Phenotypes Associated with This Genotype

Genotype
MGI:3037489

• Allelic Composition: Ppara^tm1Gonz/Ppara^tm1Gonz
• Genetic Background: involves: 129S4/SvJae * C57BL/6N

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

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:50024 )

• inhibition of mitochondrial long chain fatty acid transport results the death of all male mutants but only 25% (2/8) of female mutants, no wild-types died as a result of this treatment

• intraperitoneal injection of 100ul of a 50% dextrose solution rescues these mice

• estradiol pretreatment rescues these male mice

cardiovascular system

abnormal myocardial fiber morphology ( J:50024 )

cardiomyopathy ( J:81834 )

• the cardiomyopathic effects (increase in biventricular weight to body weight ratio, increase in left ventricular mass index, hypertrophy) of diabetes are not seen in insulin deficient mutants

homeostasis/metabolism

hypoglycemia ( J:50024 )

• male null mice develop severe hypoglycemia in response to CPT I inhibition

• estradiol rescues male null mice from the CPT I-induced death and impairment in lipid and glucose homeostasis

decreased liver glycogen level ( J:50024 )

• in male mutants compared to female mutants inhibition of mitochondrial long chain fatty acid transport produces a marked decrease in hepatic glycogen levels

delayed wound healing ( J:71272 )

• wound healing is delayed during the first 4 days post wounding

• recruitment of neutrophils and monocytes is impaired in mutants on day 1 post wounding

liver/biliary system

enlarged liver ( J:25516 )

• homozygotes do not develop liver enlargement following treatment with peroxisome proliferators

decreased liver glycogen level ( J:50024 )

• in male mutants compared to female mutants inhibition of mitochondrial long chain fatty acid transport produces a marked decrease in hepatic glycogen levels

abnormal hepatocyte morphology ( J:25516 )

• the number of liver peroxisomes does not increase after treatment with peroxisome proliferators

hepatic steatosis ( J:25516 , J:50024 )

• lipid droplets accumulate in livers of mutant mice treated with peroxisome proliferators (J:25516)

• inhibition of mitochondrial long chain fatty acid transport resulted in fatty degeneration of the liver (J:50024)

• in male mutants almost all the accumulated lipid is triglyceride (J:50024)

muscle

abnormal myocardial fiber morphology ( J:50024 )

cardiomyopathy ( J:81834 )

• the cardiomyopathic effects (increase in biventricular weight to body weight ratio, increase in left ventricular mass index, hypertrophy) of diabetes are not seen in insulin deficient mutants

integument

abnormal epidermal layer morphology ( J:81021 )

abnormal epidermis stratum corneum morphology ( J:81021 )

• between E18.5 and birth mutants display a delay in cornified layer development with a significant reduction in the number of cell layers

• processing of lamellar bilayers at the level of the first extracellular space above the stratum granulosum- cornified layer interface is delayed at E18.5

• no defect in lamellar bilayers is seen in adults

growth/size/body

enlarged liver ( J:25516 )

• homozygotes do not develop liver enlargement following treatment with peroxisome proliferators