Mouse Genome Informatics
hm
    Lpltm1Bres/Lpltm1Bres
involves: 129S4/SvJae * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Gross pathology of Lpltm1Bres/Lpltm1Bres pups at 14-16 hours after birth

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

homeostasis/metabolism
• if allowed to suckle, become progressively pale and then cyanotic
• decreased at 18 hours after birth but not at birth
• decreased at 18 hours after birth but not at birth
• increased at 18 hours after birth but not at birth
• 7-fold increase at birth, with further increases at 18 hours post birth
• 3-fold increase at birth and 80-fold increase at 18 hours after birth

adipose tissue
• severe reduction or complete absence of adipose tissue
• decreased intracellular fat droplets

cardiovascular system
• capillaries in tissues are engorged with chylomicrons
• 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
• 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
• skeletal muscle shows a reduction of both perinuclear and perisarcolemic lipid droplets

respiratory system
• 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
• lungs contain lipid-filled alveoli

integument
• if allowed to suckle, become progressively pale

Mouse Models of Human Disease
OMIM IDRef(s)
Hyperlipoproteinemia, Type I 238600 J:30062