About   Help   FAQ
Due to maintenance, access to MGI may be intermittent 7:30-8:30 AM EDT Thursday, May 28.
Phenotypes Associated with This Genotype
Genotype
MGI:5427014
Allelic
Composition
Bscl2tm1.1Lchan/Bscl2tm1.1Lchan
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bscl2tm1.1Lchan mutation (0 available); any Bscl2 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

homeostasis/metabolism
• at 10 weeks after a 4 hour fast
• increased random plasma glucose by 10 weeks
• at 10 weeks, after a 24 hour fast and 6 hour refeed
• increased random plasma insulin by 10 weeks
• at 10 weeks, after a 4 hour fast or 24 hour fast and 6 hour refeed
• at 10 weeks, under fasted conditions
• at 12 weeks
• at 10 weeks, after a 24 hour fast and 6 hour refeed
• mice exhibit decreased plasma glycerol under random or fasted conditions or following CL 316243 stimulation compared with wild-type mice
• after a 24 hour fast and 6 hour refeed
• at 10 weeks, under fasted conditions
• at 10 weeks, after a 24 hour fast and 6 hour refeed
• in mouse embryonic fibroblasts and stromal vascular cells induced to differentiate into adipocytes
• in unstimulated or CL 316243-stimulated mice
• 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

adipose tissue
• 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
• massive loss of epididymal white adipose tissue
• 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
• massive loss of epididymal white adipose tissue
• lipid droplets lose their multilobular structure
• fewer in number with small droplets interspersed with giant ones
• inferred from reduced DNA content
• residual epididymal white adipose tissue shows induction of brown adipose tissue gene signature, indicating browning of white adipose tissue

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

behavior/neurological
• in male mice

cardiovascular system

digestive/alimentary system
• longer than in control mice

growth/size/body
• during the first 3 weeks of life
• during the first 3 weeks of life

hematopoietic system

immune system

integument

liver/biliary system

renal/urinary system

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/12/2020
MGI 6.15
The Jackson Laboratory