Phenotypes associated with this allele

• Allele Symbol: Lmf1^cld
• Allele Name: combined lipase deficiency
• Allele ID: MGI:1856820
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lmf1^cld/Lmf1^cld	Not Specified	MGI:5302975
hm2	Lmf1^cld/Lmf1^cld	STOCK T/t^w73	MGI:2663277

Genotype
MGI:5302975

hm1

• Allelic Composition: Lmf1^cld/Lmf1^cld
• Genetic Background: Not Specified

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

homeostasis/metabolism

decreased lipoprotein lipase activity ( J:7738 )

• a consequence of an inactive form of lipoprotein lipase protein with subnormal catalytic activity, although electrophoretic and immunological properties appear normal

Genotype
MGI:2663277

hm2

• Allelic Composition: Lmf1^cld/Lmf1^cld
• Genetic Background: STOCK T/t^w73

mortality/aging

postnatal lethality ( J:7083 )

• homozygotes die within 36-48 hours after birth

growth/size/body

slow postnatal weight gain ( J:7083 )

• homozygotes exhibit poor weight gain

behavior/neurological

decreased locomotor activity ( J:7083 )

• although overtly normal at birth, homozygotes exhibit decreasing mobility

homeostasis/metabolism

increased circulating cholesterol level ( J:7083 )

• homozygotes show a dramatic increase in plasma cholesterol levels during the first 2 days of life, with values rising from ~60 mg/dl in utero to >450 mg/dl after P2

increased circulating triglyceride level ( J:7083 )

• homozygotes show a progressive rise in plasma triglyceride levels during the first 2 days of life, with values often reaching >20,000 mg/dl by P2 (that is, 100 times higher than that in wild-type littermates)

• however, no hypertriglyceridemia is detected in utero

hyperchylomicronemia ( J:7083 )

• homozygotes develop extreme hyperchylomicronemia within 2 days after birth as a consequence of dietary fat obtained with nursing

• chylomicron accumulation probably leads to coalescence of particles and obstruction of capillary fields in vital organs

cyanosis ( J:7083 )

• homozygotes display progressive cyanosis leading to death

decreased triglyceride lipase activity ( J:7083 )

• in affected homozygotes, the lipolytic activity of postheparin plasma and (liver and heart) tissue homogenates is only 5% to 20% of control activity for hepatic lipase (HL)

decreased lipoprotein lipase activity ( J:7083 )

• in affected homozygotes, the lipolytic activity of postheparin plasma and (liver and heart) tissue homogenates is only 5% to 20% of control activity for lipoprotein lipase (LPL)

cardiovascular system

internal hemorrhage ( J:7083 )

• homozygotes display small hemorrhages in the heart, lungs and liver

lung hemorrhage ( J:7083 )

heart hemorrhage ( J:7083 )

liver hemorrhage ( J:7083 )

respiratory system

lung hemorrhage ( J:7083 )

integument

pallor ( J:7083 )

• homozygotes become increasingly pale

liver/biliary system

liver hemorrhage ( J:7083 )