Phenotypes Associated with This Genotype

Genotype
MGI:3839539

• Allelic Composition: Lpin1^fld-2J/Lpin1^fld-2J
• Genetic Background: C3H/HeJ-Lpin1^fld-2J/J

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

adipose tissue

decreased body fat mass ( J:66739 )

• diminished adipose tissue amount, with 50-90% reductions in white and brown fat pad mass

decreased brown adipose tissue mass ( J:66739 )

abnormal fat cell morphology ( J:66739 )

• adipocytes appear immature with small heterozgenous lipid droplets

decreased brown fat cell lipid droplet size ( J:66739 )

decreased white fat cell lipid droplet size ( J:66739 )

decreased white adipose tissue mass ( J:66739 )

growth/size/body

decreased body fat mass ( J:66739 )

• diminished adipose tissue amount, with 50-90% reductions in white and brown fat pad mass

enlarged liver ( J:66739 )

homeostasis/metabolism

decreased circulating leptin level ( J:66739 )

• plasma leptin levels are significantly reduced

insulin resistance ( J:66739 )

behavior/neurological

tremors ( J:66739 )

• observed by 3 weeks of age

abnormal gait ( J:66739 )

• unstable gait observed by 3 weeks of age

liver/biliary system

enlarged liver ( J:66739 )

hepatic steatosis ( J:66739 )

• considerable fatty infiltration is found in newborns

nervous system

peripheral nervous system degeneration ( J:66739 )

• histology reveals peripheral neuropathy after 4 weeks of age

reproductive system

male infertility ( J:66739 )

♂

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
lipodystrophy		DOID:811		J:66739