Phenotypes associated with this allele

• Allele Symbol: Lpl^tm1Sem
• Allele Name: targeted mutation 1, Clay F Semenkovich
• Allele ID: MGI:2429315
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lpl^tm1Sem/Lpl^tm1Sem	involves: 129P2/OlaHsd * C57BL/6J	MGI:2651821
ht2	Lpl^tm1Sem/Lpl^+	involves: 129P2/OlaHsd * C57BL/6J	MGI:2651823
cx3	Apoe^tm1Unc/Apoe^tm1Unc Lpl^tm1Sem/Lpl^tm1Sem	involves: 129P2/OlaHsd	MGI:4354296

Genotype
MGI:2651821

hm1

• Allelic Composition: Lpl^tm1Sem/Lpl^tm1Sem
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

mortality/aging

neonatal lethality, complete penetrance ( J:25652 )

• although born viable, all homozygotes die within 48 hrs of birth in the absence of pancreatic abnormalities

homeostasis/metabolism

decreased circulating HDL cholesterol level ( J:25652 )

• at 12 hrs after birth, homozygotes exhibit no detectable serum HDL cholesterol levels

increased circulating cholesterol level ( J:25652 )

• at 12 hrs after birth, homozygotes display significantly increased total serum cholesterol levels relative to wild-type controls

increased circulating phospholipid level ( J:25652 )

• at 12 hrs after birth, homozygotes display significantly increased serum phospholipid levels relative to wild-type controls

increased circulating triglyceride level ( J:25652 )

• at 12 hrs after birth, homozygotes display an extreme elevation of serum triglycerides (13,327 mg/dl) relative to wild-type controls

hyperlipidemia ( J:25652 )

• at 12 hrs after birth, homozygotes display severe hyperlipidemia that is feeding-dependent

cardiovascular system

liver vascular congestion ( J:25652 )

• hepatic congestion is consistently observed at autopsy

pulmonary vascular congestion ( J:25652 )

• pulmonary congestion is consistently observed at autopsy

respiratory system

pulmonary vascular congestion ( J:25652 )

• pulmonary congestion is consistently observed at autopsy

atelectasis ( J:25652 )

• observed at autopsy

liver/biliary system

liver vascular congestion ( J:25652 )

• hepatic congestion is consistently observed at autopsy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial lipoprotein lipase deficiency		DOID:14118	OMIM:238600	J:25652

Genotype
MGI:2651823

ht2

• Allelic Composition: Lpl^tm1Sem/Lpl⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

homeostasis/metabolism

abnormal lipid homeostasis ( J:25652 )

increased circulating cholesterol level ( J:25652 )

increased circulating HDL cholesterol level ( J:25652 )

increased circulating phospholipid level ( J:25652 )

increased circulating triglyceride level ( J:25652 )

• mild to moderate hypertriglyceridemia without affecting static HDL cholesterol levels, both with ad libitum feeding and after fasting

increased circulating VLDL triglyceride level ( J:25652 )

• triglycerides are present as very low density lipoprotein particles and chylomicrons

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial lipoprotein lipase deficiency		DOID:14118	OMIM:238600	J:25652

Genotype
MGI:4354296

cx3

• Allelic Composition: Apoe^tm1Unc/Apoe^tm1Unc; Lpl^tm1Sem/Lpl^tm1Sem
• Genetic Background: involves: 129P2/OlaHsd

homeostasis/metabolism

abnormal vascular wound healing ( J:151434 )

• following carotid injury with ferric chloride, neointimal area is greater than in similarly treated Apoe^tm1Unc homozygotes

• however, the medial area of the healing blood vessel is normal

• following carotid injury with ferric chloride, the intima to media ratio is increased compared to in similarly treated Apoe^tm1Unc homozygotes

• following carotid injury with ferric chloride, neointimal hyperplasia induces more pronounced luminal stenosis than in similarly treated Apoe^tm1Unc homozygotes

• following carotid injury with ferric chloride, mice develop severe occlusive thrombi with complete degradation of the medial elastic fibers unlike in similarly treated Apoe^tm1Unc homozygotes

abnormal circulating lipid level ( J:151434 )

• unlike Apoe^tm1Unc homozygotes, mice fail to exhibit an increase in plasma triglyceride and cholesterol levels following carotid artery injury with ferric chloride and high cholesterol diet

abnormal circulating cholesterol level ( J:151434 )

• unlike Apoe^tm1Unc homozygotes, mice fail to exhibit an increase in plasma cholesterol levels following carotid artery injury with ferric chloride and high cholesterol diet

increased circulating cholesterol level ( J:151434 )

• pre-injury and at 12 weeks following aortic injury with ferric chloride, mice exhibit increased plasma cholesterol and non-HDL cholesterol levels compared with Apoe^tm1Unc homozygotes

increased circulating triglyceride level ( J:151434 )

• pre-injury and at 12 weeks following aortic injury with ferric chloride, mice exhibit increased plasma triglyceride levels compared with Apoe^tm1Unc homozygotes

hyperlipidemia ( J:151434 )

• at 12 weeks following aortic injury with ferric chloride, mice exhibit severe combined hyperlipidemia compared with Apoe^tm1Unc homozygotes

increased susceptibility to induced thrombosis ( J:151434 )

• following carotid injury with ferric chloride, mice develop severe occlusive thrombi with complete degradation of the medial elastic fibers unlike in similarly treated Apoe^tm1Unc homozygotes

cardiovascular system

abnormal vascular wound healing ( J:151434 )

• following carotid injury with ferric chloride, neointimal area is greater than in similarly treated Apoe^tm1Unc homozygotes

• however, the medial area of the healing blood vessel is normal

• following carotid injury with ferric chloride, the intima to media ratio is increased compared to in similarly treated Apoe^tm1Unc homozygotes

• following carotid injury with ferric chloride, neointimal hyperplasia induces more pronounced luminal stenosis than in similarly treated Apoe^tm1Unc homozygotes

• following carotid injury with ferric chloride, mice develop severe occlusive thrombi with complete degradation of the medial elastic fibers unlike in similarly treated Apoe^tm1Unc homozygotes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial combined hyperlipidemia		DOID:13809	OMIM:144250	J:151434