Phenotypes associated with this allele

• Allele Symbol: Sar1b^em1Emle
• Allele Name: endonuclease-mediated mutation 1, Emile Levy
• Allele ID: MGI:7331421
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sar1b^em1Emle/Sar1b^em1Emle	C57BL/6N-Sar1b^em1Emle	MGI:7331485
hm2	Sar1b^em1Emle/Sar1b^em1Emle	involves: 129 * C57BL/6N	MGI:7331490
ht3	Sar1b^em1Emle/Sar1b^+	C57BL/6N-Sar1b^em1Emle	MGI:7331486

Genotype
MGI:7331485

hm1

• Allelic Composition: Sar1b^em1Emle/Sar1b^em1Emle
• Genetic Background: C57BL/6N-Sar1b^em1Emle

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:319817 )

• only 12% versus the expected 25% of homozygotes are obtained, with pups dead at birth indicating late-gestation lethality

Genotype
MGI:7331490

hm2

• Allelic Composition: Sar1b^em1Emle/Sar1b^em1Emle
• Genetic Background: involves: 129 * C57BL/6N

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:319817 )

• lethality during late-gestation

Genotype
MGI:7331486

ht3

• Allelic Composition: Sar1b^em1Emle/Sar1b⁺
• Genetic Background: C57BL/6N-Sar1b^em1Emle

homeostasis/metabolism

abnormal intestinal lipid absorption ( J:319817 )

• mice exhibit reduced triglyceride concentration after olive oil intragastric administration indicating intestinal fat malabsorption

• an increase in triglyceride and total cholesterol is seen in the gut following fat load

abnormal circulating non-HDL cholesterol level ( J:319817 )

• mice show an increase in non-HDL cholesterol

decreased circulating cholesterol level ( J:319817 )

decreased circulating HDL cholesterol level ( J:319817 )

decreased circulating triglyceride level ( J:319817 )

abnormal lipid metabolism ( J:319817 )

• protein and gene expression analysis shows altered intestinal, but not liver, lipid metabolism, with a plausible enhancement of fatty acid beta-oxidation in the intestine and decline in lipogenesis process

decreased lipogenesis ( J:319817 )

• chylomicron lipid content shows lower triglyceride and total cholesterol content, indicating depressed chylomicron output

digestive/alimentary system

abnormal intestinal lipid absorption ( J:319817 )

• mice exhibit reduced triglyceride concentration after olive oil intragastric administration indicating intestinal fat malabsorption

• an increase in triglyceride and total cholesterol is seen in the gut following fat load

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
chylomicron retention disease		DOID:0060357	OMIM:246700	J:319817