About   Help   FAQ
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





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory