Phenotypes Associated with This Genotype

Genotype
MGI:5427014

• Allelic Composition: Bscl2^tm1.1Lchan/Bscl2^tm1.1Lchan
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:183701 )

• early

homeostasis/metabolism

decreased circulating leptin level ( J:183701 )

abnormal glucose homeostasis ( J:183701 )

decreased circulating glucose level ( J:183701 )

• at 10 weeks after a 4 hour fast

increased circulating glucose level ( J:183701 )

• increased random plasma glucose by 10 weeks

• at 10 weeks, after a 24 hour fast and 6 hour refeed

increased circulating insulin level ( J:183701 )

• increased random plasma insulin by 10 weeks

• at 10 weeks, after a 4 hour fast or 24 hour fast and 6 hour refeed

insulin resistance ( J:183701 )

decreased circulating adiponectin level ( J:183701 )

abnormal lipid homeostasis ( J:183701 )

decreased circulating free fatty acids level ( J:183701 )

• at 10 weeks, under fasted conditions

• at 12 weeks

increased circulating free fatty acids level ( J:183701 )

• at 10 weeks, after a 24 hour fast and 6 hour refeed

decreased circulating glycerol level ( J:183701 )

• mice exhibit decreased plasma glycerol under random or fasted conditions or following CL 316243 stimulation compared with wild-type mice

increased circulating glycerol level ( J:183701 )

• after a 24 hour fast and 6 hour refeed

decreased circulating triglyceride level ( J:183701 )

• at 10 weeks, under fasted conditions

increased circulating triglyceride level ( J:183701 )

• at 10 weeks, after a 24 hour fast and 6 hour refeed

abnormal lipid metabolism ( J:211142 )

• epididymal and subcutaneous white adipose tissue exhibit changes in lipid metabolism, with decreased levels of triacylglyceride and increased levels of other lipid classes, including cholesterol ester, nonesterified free fatty acid, diacylglyceride , free cholesterol and phospholipids

enhanced lipolysis ( J:183701 )

• in mouse embryonic fibroblasts and stromal vascular cells induced to differentiate into adipocytes

• in unstimulated or CL 316243-stimulated mice

adipose tissue

decreased brown adipose tissue amount ( J:183701 )

decreased total body fat amount ( J:183701 )

abnormal fat cell differentiation ( J:183701 )

• mouse embryonic fibroblasts and stromal vascular cells induced to differentiate into adipocytes fail to maintain and terminate adipocyte differentiation unlike wild-type cells

• however, ER stress-related apoptosis is not responsible for the aborted adipogenesis and lipase inhibitors rescue adipogenesis

abnormal fat pad morphology ( J:183701 )

abnormal epididymal fat pad morphology ( J:211142 )

• massive loss of epididymal white adipose tissue

decreased gonadal fat pad weight ( J:183701 )

• at 12 weeks

decreased renal fat pad weight ( J:183701 )

• at 12 weeks

decreased interscapular fat pad weight ( J:183701 )

• at 12 weeks

abnormal white adipose tissue morphology ( J:211142 )

• residual epididymal white adipose tissue has decreased levels of triacylglyceride but increased levels of other lipid classes, including cholesterol ester, nonesterified free fatty acid, diacylglyceride, free cholesterol and phospholipids

• visceral white adipose tissues show altered elongation and desaturation in total fatty acid compositions; decrease in palmitic16:0 and increase in oleic18:1n9, decrease in alpha-linolenic18:3n3, gamma-linolenic 18:3n6, and increase in DHA22:6n3

• epididymal white adipose tissue show changes in molecular species of glycerolipids, with most showing relative decreases in short or very long fatty acyl chains

• residual subcutaneous white adipose tissues are not browning but show altered lipid metabolism, with decreased levels of triacylglyceride and increased levels of other lipid classes, including cholesterol ester, nonesterified free fatty acid, diacylglyceride , free cholesterol and phospholipids

decreased subcutaneous adipose tissue amount ( J:183701 )

• at 12 weeks

abnormal white adipose tissue amount ( J:183701 )

decreased white adipose tissue amount ( J:211142 )

• massive loss of epididymal white adipose tissue

abnormal white fat cell morphology ( J:183701 )

• lipid droplets lose their multilobular structure

• fewer in number with small droplets interspersed with giant ones

decreased white fat cell number ( J:183701 )

• inferred from reduced DNA content

decreased white fat cell size ( J:183701 )

abnormal white adipose tissue physiology ( J:211142 )

• residual epididymal white adipose tissue shows induction of brown adipose tissue gene signature, indicating browning of white adipose tissue

cellular

abnormal fat cell differentiation ( J:183701 )

• mouse embryonic fibroblasts and stromal vascular cells induced to differentiate into adipocytes fail to maintain and terminate adipocyte differentiation unlike wild-type cells

• however, ER stress-related apoptosis is not responsible for the aborted adipogenesis and lipase inhibitors rescue adipogenesis

abnormal cellular respiration ( J:183701 )

• mouse embryonic fibroblast-derived adipocytes exhibit increased aerobic and anaerobic respiration compared with wild-type cells

abnormal aerobic respiration ( J:183701 )

• increased

behavior/neurological

polyphagia ( J:183701 )

• in male mice

cardiovascular system

enlarged heart ( J:183701 )

digestive/alimentary system

abnormal small intestine morphology ( J:183701 )

• longer than in control mice

growth/size/body

enlarged heart ( J:183701 )

increased lean body mass ( J:183701 )

decreased body size ( J:183701 )

• during the first 3 weeks of life

decreased body weight ( J:183701 )

• during the first 3 weeks of life

enlarged kidney ( J:183701 )

enlarged liver ( J:183701 )

enlarged spleen ( J:183701 )

hematopoietic system

enlarged spleen ( J:183701 )

immune system

enlarged spleen ( J:183701 )

integument

decreased subcutaneous adipose tissue amount ( J:183701 )

• at 12 weeks

liver/biliary system

enlarged liver ( J:183701 )

hepatic steatosis ( J:183701 )

renal/urinary system

enlarged kidney ( J:183701 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital generalized lipodystrophy type 2		DOID:0111136	OMIM:269700	J:211142