Phenotypes Associated with This Genotype

Genotype
MGI:3829009

• Allelic Composition: Cavin1^tm1Pfp/Cavin1^tm1Pfp
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:205741 )

• fewer than expected mice are present at weaning

homeostasis/metabolism

abnormal circulating hormone level ( J:143425 )

increased circulating insulin level ( J:143425 )

decreased circulating leptin level ( J:143425 )

• serum leptin and adiponectin levels are lower than in wild-type mice

abnormal circulating lipid level ( J:143425 )

increased circulating free fatty acids level ( J:143425 )

increased circulating triglyceride level ( J:143425 )

hyperlipidemia ( J:143425 )

impaired glucose tolerance ( J:143425 )

insulin resistance ( J:143425 )

decreased basal metabolism ( J:143425 )

• mice display a lower resting metabolic rate compared to wild-type mice

growth/size/body

increased lean body mass ( J:143425 )

• mice are leaner than wild-type mice

cellular

absent caveolae ( J:143425 , J:205741 )

• in lung epithelium and skeletal muscle (J:143425)

• absence of caveolae in microvascular endothelia (J:205741)

behavior/neurological

decreased locomotor activity ( J:143425 )

cardiovascular system

abnormal vascular endothelial cell morphology ( J:205741 )

• absence of caveolae in microvascular endothelia

abnormal lung vasculature morphology ( J:205741 )

• gaps in the lung capillary

respiratory system

abnormal lung vasculature morphology ( J:205741 )

• gaps in the lung capillary

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital generalized lipodystrophy type 4		DOID:0111138	OMIM:613327	J:150419