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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ppargtm1Rev
targeted mutation 1, Ronald M Evans
MGI:2149838
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ppargtm1Rev/Ppargtm1Rev involves: 129S4/SvJae MGI:2174987
ht2
Ppargtm1Rev/Pparg+ involves: 129S4/SvJae * C57BL/6J MGI:2174989
ht3
Ppargtm1Rev/Ppargtm2Mae involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6J MGI:4412011


Genotype
MGI:2174987
hm1
Allelic
Composition
Ppargtm1Rev/Ppargtm1Rev
Genetic
Background
involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppargtm1Rev mutation (1 available); any Pparg mutation (41 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• at E9.5, numerous mitochondria in the ventricular subepicardial myocytes appear significantly inflated and irregularly shaped, suggesting mitochondrial cardiomyopathy

mortality/aging
• at E9.5 or earlier, homozygous mutant embryos are recovered at the expected Mendelian ratio and appear normal in both size and gross morphology
• however, all mutant embryos obtained after E9.5 are dead and display progressive necrosis

embryo
• at E9.5, mutant embryos display abnormal thickening of the chorionic plate, with poorly differentiated chorionic villi and reduced hemotrichorial layer characteristics
• at E9.5, homozygotes show a dramatic decrease of lipid droplet accumulation in the three cell-layered labyrinthine barrier, with scarce lipid droplets found in presumptive hemotrichorial layers I and II, and miniscule lipid droplets found in layer III
• at E9.5, mutant embryos display a maturation block in labyrinthine trophoblast, with an abnormally thick trophoblast tissue retaining features of the early labyrinthine parenchyma
• at E9.5, mutant placentas exhibit abnormal fetal and maternal vascular networks, with fetal vessels rarely permeating the presumptive labyrinth
• maternal blood sinuses appear frequently dilated, ruptured, and thus adjoined within mutant placentas, often forming a continuous blood pool throughout the entire zone
• maternal erythrocytes, normally restricted to the sinuses, are noted throughout the cytoplasms of cells in the mutant junctional zone, indicating obvious erythrophagocytic activity of the trophoblasts lining the maternal sinuses
• at E9.5, homozygotes display failure of fetal vessel permeation, phagocytosis of maternal blood cells, incomplete epithelialization of the labyrinthine barrier, and loose endothelial trophoblast contacts
• at E9.5, the mutant trophoblast epithelium is less compact while the fetal endothelium is detached from hemotrichorial layer III

cardiovascular system
• at E9.5, mutant placentas exhibit abnormal fetal and maternal vascular networks, with fetal vessels rarely permeating the presumptive labyrinth
• maternal blood sinuses appear frequently dilated, ruptured, and thus adjoined within mutant placentas, often forming a continuous blood pool throughout the entire zone
• maternal erythrocytes, normally restricted to the sinuses, are noted throughout the cytoplasms of cells in the mutant junctional zone, indicating obvious erythrophagocytic activity of the trophoblasts lining the maternal sinuses
• at E9.5, homozygotes display degeneration of the trabecular zone
• at E9.5, homozygotes exhibit severe thinning of the compact zone of the ventricular myocardium
• at E9.5, homozygotes exhibit premature differentiation of ventricular subepicardial myocytes, as shown by frequent tandem sarcomers, separated by multiple Z lines, crossing cell boundaries through intercalated discs
• at E9.5, numerous mitochondria in the ventricular subepicardial myocytes appear significantly inflated and irregularly shaped, suggesting mitochondrial cardiomyopathy
• at E9.5, homozygotes display severe thinning of the ventricular septum
• at E9.5, homozygotes display severe thinning of the ventricular wall

muscle
• at E9.5, homozygotes display degeneration of the trabecular zone
• at E9.5, homozygotes exhibit severe thinning of the compact zone of the ventricular myocardium
• at E9.5, numerous mitochondria in the ventricular subepicardial myocytes appear significantly inflated and irregularly shaped, suggesting mitochondrial cardiomyopathy




Genotype
MGI:2174989
ht2
Allelic
Composition
Ppargtm1Rev/Pparg+
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppargtm1Rev mutation (1 available); any Pparg mutation (41 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• male heterozygotes are apparently healthy and exhibit no significant differences in body weight, fat-pad, basal fasting glucose and insulin levels or FFA levels relative to wild-type mice
• unexpectedly, during oral glucose tolerance tests, heterozygotes are able to maintain wild-type glucose levels, despite a significant reduction in plasma insulin concentrations
• during glucose clamp experiments, heterozygotes show a 30% increase in the insulin-induced glucose disposal rate relative to wild-type mice
• similarly, heterozygotes exhibit a significant increase in insulin-induced suppression of hepatic glucose production relative to wild-type mice
• improved insulin sensitivity may be associated with increased serum leptin levels, as heterozygotes do show a significant increase in leptin mRNA expression

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
NOT familial partial lipodystrophy DOID:0050440 OMIM:PS151660
J:60354




Genotype
MGI:4412011
ht3
Allelic
Composition
Ppargtm1Rev/Ppargtm2Mae
Genetic
Background
involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppargtm1Rev mutation (1 available); any Pparg mutation (41 available)
Ppargtm2Mae mutation (0 available); any Pparg mutation (41 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• in males and females at 4 months of age
• overall, decreased Pparg expression correlates with increased blood pressure





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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory