Phenotypes associated with this allele

• Allele Symbol: Insig2^tm1Mbjg
• Allele Name: targeted mutation 1, Joseph L Goldstein
• Allele ID: MGI:3603525
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Insig1^tm1Mbjg/Insig1^tm1Mbjg Insig2^tm1Mbjg/Insig2^tm1Mbjg Tg(Mx1-cre)29-4Her/0	involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NCrl * SJL	MGI:3607700
cx2	Insig1^tm1.1Mbjg/Insig1^tm1.1Mbjg Insig2^tm1Mbjg/Insig2^tm1Mbjg	involves: 129S6/SvEvTac * C57BL/6NCrl * FVB/N	MGI:3607698
cx3	Insig1^tm1.1Mbjg/Insig1^tm1.1Mbjg Insig2^tm1Mbjg/Insig2^+	involves: 129S6/SvEvTac * C57BL/6NCrl * FVB/N	MGI:3607699

Genotype
MGI:3607700

cn1

• Allelic Composition: Insig1^tm1Mbjg/Insig1^tm1Mbjg; Insig2^tm1Mbjg/Insig2^tm1Mbjg; Tg(Mx1-cre)29-4Her/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NCrl * SJL

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

homeostasis/metabolism

abnormal lipid homeostasis ( J:101203 )

• hepatic sterol synthesis is elevated 5-fold and does not decline with a high-cholesterol diet as in controls

decreased circulating triglyceride level ( J:101203 )

• triglycerides are slightly reduced when fed a chow diet ad libitum

abnormal cholesterol homeostasis ( J:101203 )

• hepatic HMG-CoA reductase activity is elevated and fails to decline after cholesterol feeding as in controls

increased circulating cholesterol level ( J:101203 )

• plasma cholesterol is slightly elevated when fed a chow diet ad libitum

increased liver cholesterol level ( J:101203 )

• hepatic content of total cholesterol is increased by 4-fold, however it does not increase further with cholesterol feeding

• hepatic content of free cholesterol is increased by 1.4-fold and the cholesteryl ester content by 15-fold

increased fatty acids level ( J:101203 )

• hepatic fatty acid synthesis is 3-fold higher when fed the low-cholesterol diet

increased liver triglyceride level ( J:101203 )

• hepatic content of total triglycerides is increased by 6-fold

liver/biliary system

abnormal liver morphology ( J:101203 )

• accumulation of lipids in the liver

increased liver cholesterol level ( J:101203 )

• hepatic content of total cholesterol is increased by 4-fold, however it does not increase further with cholesterol feeding

• hepatic content of free cholesterol is increased by 1.4-fold and the cholesteryl ester content by 15-fold

increased liver triglyceride level ( J:101203 )

• hepatic content of total triglycerides is increased by 6-fold

pale liver ( J:101203 )

• liver Is pale due to accumulation of lipids

abnormal hepatobiliary system physiology ( J:101203 )

• hepatic sterol and fatty acid synthesis is elevated and hepatic triglyceride and cholesterol content is increased

Genotype
MGI:3607698

cx2

• Allelic Composition: Insig1^tm1.1Mbjg/Insig1^tm1.1Mbjg; Insig2^tm1Mbjg/Insig2^tm1Mbjg
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6NCrl * FVB/N

mortality/aging

postnatal lethality ( J:101203 )

• observe 82% of the expected double homozygotes at E18.5 and none at genotyping

Genotype
MGI:3607699

cx3

• Allelic Composition: Insig1^tm1.1Mbjg/Insig1^tm1.1Mbjg; Insig2^tm1Mbjg/Insig2⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6NCrl * FVB/N

mortality/aging

postnatal lethality ( J:101203 )

• only 3 of 12 expected mice were observed at genotyping