Phenotypes associated with this allele

• Allele Symbol: Pparg^tm1Avp
• Allele Name: targeted mutation 1, Antonio Vidal-Puig
• Allele ID: MGI:3694813
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pparg^tm1Avp/Pparg^tm1Avp	involves: 129S2/SvPas * C57BL/6	MGI:3695902
ht2	Pparg^tm1Avp/Pparg^+	involves: 129S2/SvPas * C57BL/6	MGI:3695903
cx3	Lep^ob/Lep^ob Pparg^tm1Avp/Pparg^+	involves: 129S2/SvPas * C57BL/6	MGI:3695904

Genotype
MGI:3695902

hm1

• Allelic Composition: Pparg^tm1Avp/Pparg^tm1Avp
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

mortality/aging

preweaning lethality, complete penetrance ( J:116568 )

• no specific time of death given

Genotype
MGI:3695903

ht2

• Allelic Composition: Pparg^tm1Avp/Pparg⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6

cellular

abnormal fat cell differentiation ( J:116568 )

• in vitro differentiation of preadipocytes is impaired

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:116568 )

N • on a normal chow or high fat diet insulin sensitivity is similar to wild-type mice unlike human patients with the same mutation

decreased circulating adiponectin level ( J:116568 )

• reduced serum adiponectin level

abnormal lipid homeostasis ( J:116568 )

• impaired clearance of triglycerides and fatty acids in an oral lipid load test

abnormal triglyceride level ( J:116568 )

increased circulating triglyceride level ( J:116568 )

• in mice on a high fat diet

growth/size/body

growth/size/body region phenotype ( J:116568 )

N • on a normal chow or high fat diet body mass is similar to wild-type mice unlike human patients with the same mutation

increased liver weight ( J:116568 )

• in mice on a high fat diet compared to wild-type mice on the same diet

adipose tissue

abnormal adipose tissue distribution ( J:116568 )

• decreased ratio of gonadal white adipose tissue to inguinal subcutaneous white adipose tissue; however total body fat is similar to wild-type

abnormal fat cell differentiation ( J:116568 )

• in vitro differentiation of preadipocytes is impaired

liver/biliary system

increased liver weight ( J:116568 )

• in mice on a high fat diet compared to wild-type mice on the same diet

hepatic steatosis ( J:116568 )

• on a high fat diet but not when fed a normal chow diet

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	familial partial lipodystrophy	DOID:0050440	OMIM:PS151660	J:116568

Genotype
MGI:3695904

cx3

• Allelic Composition: Lep^ob/Lep^ob; Pparg^tm1Avp/Pparg⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6

homeostasis/metabolism

increased circulating triglyceride level ( J:116568 )

• increased compared to mice that are wild-type at the Lep locus and on a high fat diet

abnormal glucose homeostasis ( J:116568 )

increased circulating glucose level ( J:116568 )

• increased at 4 weeks of age in fed mice relative to Lep^ob homozygotes and wild-type mice

increased circulating insulin level ( J:116568 )

• not significantly different from Lep^ob homozygotes, but increased compared to wild-type mice

insulin resistance ( J:116568 )

• increased relative to Lep^ob homozygotes

decreased circulating adiponectin level ( J:116568 )

• reduced plasma adiponectin levels, independent of presence or absence of the Lep^ob allele

growth/size/body

decreased body fat mass ( J:116568 )

• at 12 weeks of age fat mass is reduced relative to Lep^ob homozygotes

decreased body weight ( J:116568 )

• at 5 weeks of age body mass is decreased relative to Lep^ob homozygotes, but is still higher than in wild-type mice

• at 12 weeks of age body mass is reduced by 14% and 12 % in females and males, respectively, relative to Lep^ob homozygotes

increased liver weight ( J:116568 )

• at 12 weeks of age relative to Lep^ob homozygotes

adipose tissue

abnormal white adipose tissue amount ( J:116568 )

• reduced amount of gonadal and subcutaneous white fat relative to Lep^ob homozygotes

decreased body fat mass ( J:116568 )

• at 12 weeks of age fat mass is reduced relative to Lep^ob homozygotes

decreased fat cell size ( J:116568 )

• smaller adipocytes in the gonadal and subcutaneous white fat relative to Lep^ob homozygotes

abnormal gonadal fat pad morphology ( J:116568 )

• reduced amount relative to Lep^ob homozygotes

liver/biliary system

increased liver weight ( J:116568 )

• at 12 weeks of age relative to Lep^ob homozygotes

hepatic steatosis ( J:116568 )

• at 12 weeks of age relative to Lep^ob homozygotes

muscle

abnormal skeletal muscle morphology ( J:116568 )

• reduced intramyocellular lipid deposition relative to Lep^ob homozygotes

behavior/neurological

polyphagia ( J:116568 )

• not significantly different from Lep^ob homozygotes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial partial lipodystrophy		DOID:0050440	OMIM:PS151660	J:116568