Phenotypes Associated with This Genotype

Genotype
MGI:3784504

• Allelic Composition: Pparg^tm3(tTA)Yba/Pparg⁺
• Genetic Background: involves: 129S1/SvImJ * C57BL/6

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

Mild lipodystrophy with modest metabolic anomalies in Pparg^tm3(tTA)Yba/Pparg⁺ mice compared to Pparg^tm2(tTA)Yba/Pparg⁺ mice

adipose tissue

decreased subcutaneous adipose tissue amount ( J:125992 )

• subcutaneous fat pad is reduced but present

• however, treatment with doxycycline reverses defects observed

abnormal brown adipose tissue morphology ( J:125992 )

• brown adipocytes are pale, unilocular and hypertrophic

• however, no buffalo humps are observed and treatment wit doxycycline reverses defects observed

• authors state that defects in brown adipose tissue are the same as in Pparg^tm2Yba heterozygotes

abnormal brown fat cell morphology ( J:125992 )

• brown adipocytes are pale, unilocular and hypertrophic

• however, treatment with doxycycline reverses defects observed

increased brown fat cell size ( J:125992 )

• brown adipocytes are hypertrophic

decreased gonadal fat pad weight ( J:125992 )

• gonadal fat pads are reduced compared to in wild-type mice

• however, treatment with doxycycline reverses defects observed

homeostasis/metabolism

increased circulating insulin level ( J:125992 )

• however, treatment with doxycycline reverses defects observed

• insulin levels are elevated compared to those in wild-type mice but not as high as in Pparg^tm2Yba heterozygotes

increased circulating triglyceride level ( J:125992 )

• triglyceride levels are elevated compared to those in wild-type mice but not as high as in Pparg^tm2Yba heterozygotes

• however, treatment with doxycycline reverses defects observed

liver/biliary system

enlarged liver ( J:125992 )

• the liver is modestly increased in size compared to in wild-type mice

• however, treatment with doxycycline reverses defects observed

integument

decreased subcutaneous adipose tissue amount ( J:125992 )

• subcutaneous fat pad is reduced but present

• however, treatment with doxycycline reverses defects observed

growth/size/body

enlarged liver ( J:125992 )

• the liver is modestly increased in size compared to in wild-type mice

• however, treatment with doxycycline reverses defects observed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital generalized lipodystrophy type 2		DOID:0111136	OMIM:269700	J:125992
familial partial lipodystrophy		DOID:0050440	OMIM:PS151660	J:125992