All Phenotypes Lpl<tm1Bres> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lpl^tm1Bres/Lpl^tm1Bres	involves: 129S4/SvJae * C57BL/6J	MGI:2651806
ht2	Lpl^tm1Bres/Lpl⁺	involves: 129S4/SvJae	MGI:3789703
ht3	Lpl^tm1Bres/Lpl⁺	involves: 129S4/SvJae * C57BL/6J	MGI:2651807
cx4	Lpl^tm1Bres/Lpl^tm1Bres Tg(Myh6-LPL*)357Ijg/0	involves: 129S4/SvJae	MGI:5907464
cx5	Lpl^tm1Bres/Lpl⁺ Tg(Myh6-LPL*)357Ijg/0	involves: 129S4/SvJae	MGI:5907465

♀	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 )

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

Allelic Composition	Lpl^tm1Bres/Lpl⁺
Genetic Background	involves: 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lpl^tm1Bres mutation (0 available); any Lpl mutation (45 available)

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

growth/size/body

increased body weight ( J:134171 )

• increased body weight at all time points measured between 11 and 23 weeks of age

• increase in the fat mass to lean mass ratio

• difference in fat mass to lean mass ratio compared to controls increases over time

adipose tissue

increased total fat pad weight ( J:134171 )

• males have significantly increased fat pad weights compared to controls

homeostasis/metabolism

increased cholesterol level ( J:134171 )

• females exhibit increased unesterified and total cholesterol levels

increased triglyceride level ( J:134171 )

• males and females have significantly increased endpoint triglycerides

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lpl^tm1Bres mutation (0 available); any Lpl mutation (45 available)

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

homeostasis/metabolism

abnormal lipid homeostasis ( J:30062 )

• 42% reduction in the VLDL fractional catabolic rate

• a vitamin A fat tolerance test used to asses dietary fat (chylomicron) clearance indicates a delay in the clearance of chylomicrons and VLDL

increased circulating cholesterol level ( J:30062 )

• 10-30% modest elevation

increased circulating VLDL cholesterol level ( J:30062 )

• increase in cholesterol is in the VLDL fraction

increased circulating triglyceride level ( J:30062 )

• both in the fed and fasted state, triglyceride levels are 52-126% higher

increased circulating VLDL triglyceride level ( J:30062 )

• increase in triglycerides is in the VLDL fraction

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

Allelic Composition	Lpl^tm1Bres/Lpl^tm1Bres Tg(Myh6-LPL*)357Ijg/0
Genetic Background	involves: 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lpl^tm1Bres mutation (0 available); any Lpl mutation (45 available)
Tg(Myh6-LPL*)357Ijg mutation (0 available)

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

mortality/aging

neonatal lethality ( J:134550 )

• newborns die within 24 hours

Allelic Composition	Lpl^tm1Bres/Lpl⁺ Tg(Myh6-LPL*)357Ijg/0
Genetic Background	involves: 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lpl^tm1Bres mutation (0 available); any Lpl mutation (45 available)
Tg(Myh6-LPL*)357Ijg mutation (0 available)

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

mortality/aging

premature death ( J:134550 )

• males begin to die after 20 weeks of age and all die by 60 weeks of age

• breeding females begin to die around 4 weeks of age and all die by 32 weeks of age

cardiovascular system

abnormal cardiac muscle tissue morphology ( J:134550 )

• disarrayed cardiomyocyte architecture with increased mitochondria

abnormal heart morphology ( J:134550 )

• increase in intracellular neutral lipid in hearts from 24-hour fasted mice

• 58.9% increase in cholesteryl ester and a 24.7% increase in free fatty acid in hearts

abnormal myocardial fiber morphology ( J:134550 )

• lipid accumulation within myocytes

enlarged heart ( J:134550 )

• 4 month old males exhibit enlarged hearts

increased heart weight ( J:134550 )

• females exhibit an increase in heart weight

dilated heart left ventricle ( J:134550 )

abnormal cardiovascular system physiology ( J:134550 )

• hearts exhibit 54% more VLDL-triglyceride uptake in the absence of heparin and 26% more uptake in the presence of heparin than controls

decreased heart left ventricle muscle contractility ( J:134550 )

• left ventricular systolic function is impaired

• however, no increase in ventricular wall thickness is seen

cardiomyopathy ( J:134550 )

homeostasis/metabolism

abnormal blood homeostasis ( J:134550 )

• heparinized mice exhibit faster clearance of VLDL from the plasma than single Lpl homozygotes

abnormal lipid level ( J:134550 )

• increase in intracellular neutral lipid in hearts from 24-hour fasted mice

increased fatty acids level ( J:134550 )

• 24.7% increase in free fatty acid in hearts

muscle

abnormal cardiac muscle tissue morphology ( J:134550 )

• disarrayed cardiomyocyte architecture with increased mitochondria

abnormal myocardial fiber morphology ( J:134550 )

• lipid accumulation within myocytes

decreased heart left ventricle muscle contractility ( J:134550 )

• left ventricular systolic function is impaired

• however, no increase in ventricular wall thickness is seen

cardiomyopathy ( J:134550 )

growth/size/body

enlarged heart ( J:134550 )

• 4 month old males exhibit enlarged hearts

increased heart weight ( J:134550 )

• females exhibit an increase in heart weight

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cardiomyopathy		DOID:0050700		J:134550

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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