Phenotypes associated with this allele

• Allele Symbol: Pparg^tm1Mae
• Allele Name: targeted mutation 1, Nobuyo Maeda
• Allele ID: MGI:3050095
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pparg^tm1Mae/Pparg^tm1Mae	involves: 129S6/SvEvTac * C57BL/6	MGI:3050149
ht2	Pparg^tm1Mae/Pparg^+	involves: 129S6/SvEvTac * C57BL/6	MGI:3050152

Genotype
MGI:3050149

hm1

• Allelic Composition: Pparg^tm1Mae/Pparg^tm1Mae
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

mortality/aging

prenatal lethality, complete penetrance ( J:91362 )

• all homozygous mutants die in utero

Genotype
MGI:3050152

ht2

• Allelic Composition: Pparg^tm1Mae/Pparg⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

adipose tissue

abnormal adipose tissue distribution ( J:91362 )

• interscapular brown adipose tissue and gonadal fat mass are reduced to about 80% and 70% wild-type, respectively, however the inguinal fat pad and pectoral subcutaneous fat pad are each increased to about 140% wild-type

• the overall ratio of intra-abdominal to extra-abdominal fat weight is reduced to 63% wild-type

abnormal fat cell morphology ( J:91362 )

• the size of adipocytes is abnormally uniform with fewer small cells found

abnormal gonadal fat pad morphology ( J:91362 )

• gonadal fat mass is reduced to about 70% wild-type as a result of a decrease in cell numbers

abnormal inguinal fat pad morphology ( J:91362 )

• the inguinal fat pad is increased to about 140% wild-type

cardiovascular system

hypertension ( J:91362 )

• blood pressure is increased about 8 mmHg in both male and female mutants

endocrine/exocrine glands

abnormal endocrine pancreas morphology ( J:91362 )

• islet area and endocrine mass are significantly increased in mutants fed a high fat diet

homeostasis/metabolism

improved glucose tolerance ( J:91362 )

• glucose tolerance is improved and insulin sensitivity is normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	familial partial lipodystrophy	DOID:0050440	OMIM:PS151660	J:91362