Phenotypes Associated with This Genotype

Genotype
MGI:2651806

• Allelic Composition: Lpl^tm1Bres/Lpl^tm1Bres
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

Gross pathology of Lpl^tm1Bres/Lpl^tm1Bres pups at 14-16 hours after birth

mortality/aging

neonatal lethality, complete penetrance ( J:30062 )

• most die by 16-18 hours of age, although a few survive as long as 24 hours

homeostasis/metabolism

cyanosis ( J:30062 )

• if allowed to suckle, become progressively pale and then cyanotic

abnormal lipid homeostasis ( J:30062 )

decreased circulating HDL cholesterol level ( J:30062 )

• decreased at 18 hours after birth but not at birth

decreased circulating LDL cholesterol level ( J:30062 )

• decreased at 18 hours after birth but not at birth

increased circulating cholesterol level ( J:30062 )

• increased at 18 hours after birth but not at birth

increased circulating VLDL cholesterol level ( J:30062 )

• 7-fold increase at birth, with further increases at 18 hours post birth

increased circulating triglyceride level ( J:30062 )

• 3-fold increase at birth and 80-fold increase at 18 hours after birth

adipose tissue

abnormal adipose tissue morphology ( J:30062 )

• severe reduction or complete absence of adipose tissue

• decreased intracellular fat droplets

cardiovascular system

abnormal capillary morphology ( J:30062 )

• capillaries in tissues are engorged with chylomicrons

abnormal lung vasculature morphology ( J:30062 )

• lungs contain dilated capillaries engorged with large lipoprotein particles; within capillaries, these particles are marginated and appear to block contact of the centrally located red blood cells with the endothelium

liver/biliary system

abnormal liver morphology ( J:30062 )

• intracellular lipid droplets are largely absent in the liver, with very large amounts of lipid appearing in the sinusoids

• liver shows extravasation of lipid from the lipid-engorged sinusoids into the intercellular spaces, disrupting tight junctions and the general breakdown of parenchymal architecture

muscle

abnormal skeletal muscle morphology ( J:30062 )

• skeletal muscle shows a reduction of both perinuclear and perisarcolemic lipid droplets

respiratory system

abnormal lung vasculature morphology ( J:30062 )

• lungs contain dilated capillaries engorged with large lipoprotein particles; within capillaries, these particles are marginated and appear to block contact of the centrally located red blood cells with the endothelium

abnormal pulmonary alveolus morphology ( J:30062 )

• lungs contain lipid-filled alveoli

integument

pallor ( J:30062 )

• if allowed to suckle, become progressively pale

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial lipoprotein lipase deficiency		DOID:14118	OMIM:238600	J:30062