Phenotypes Associated with This Genotype

Genotype
MGI:2651821

• 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