Phenotypes associated with this allele

• Allele Symbol: Lmf1^{Gt(OST195742)Lex}
• Allele Name: gene trap OST195742, Lexicon Genetics
• Allele ID: MGI:4226427
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lmf1^Gt(OST195742)Lex/Lmf1^Gt(OST195742)Lex	involves: 129S5/SvEvBrd * C57BL/6J	MGI:5688908

Genotype
MGI:5688908

hm1

• Allelic Composition: Lmf1^{Gt(OST195742)Lex}/Lmf1^{Gt(OST195742)Lex}
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

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

mortality/aging

postnatal lethality, complete penetrance ( J:223457 )

• although represented at an expected Mendelian ratio at P1, the proportion of mutant pups gradually declines in subsequent days, with no surviving homozygotes obtained at P4

homeostasis/metabolism

increased circulating cholesterol level ( J:223457 )

• at P1, plasma total cholesterol levels are significantly increased relative to wild-type or heterozygous controls

• FPLC analysis revealed that plasma cholesterol is predominantly associated with IDL/LDL particles

• however, plasma HDL-cholesterol levels are not significantly altered at P1

increased circulating triglyceride level ( J:223457 )

• at P1, homozygotes appear morphologically normal but show a ~80-fold increase in plasma triglyceride levels relative to neonatal wild-type or heterozygous controls

• hypertriglyceridemia is due to combined lipase deficiency

• FPLC analysis revealed that plasma triglycerides are predominantly associated with the chylomicron/VLDL fraction

hyperlipidemia ( J:223457 )

• at P1, plasma has a milky appearance; when blood is centrifuged in heparinized separation tubes, a white fat cake is observed in neonatal plasma

decreased triglyceride lipase activity ( J:223457 )

• at P1, post-heparin plasma hepatic lipase (HL) activities are dramatically reduced relative to those in neonatal controls

decreased lipoprotein lipase activity ( J:223457 )

• at P1, post-heparin lipoprotein lipase (LPL) activities are dramatically reduced relative to those in neonatal controls