Phenotypes Associated with This Genotype

Genotype
MGI:3688001

• Allelic Composition: Apob^tm1Mae/Apob⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

homeostasis/metabolism

decreased circulating cholesterol level ( J:113171 )

• total cholesterol levels are 18% lower in males and 24% lower in females compared to wild-type levels

abnormal circulating apolipoprotein level ( J:36426 , J:113171 )

• amount of plasma Apo B81 protein is about 10% of wild-type Apo B100 levels (J:36426)

• total plasma ApoB levels in males are decreased by 38% in males and by 32% in females (J:113171)

abnormal triglyceride level ( J:113171 )

• triglyceride secretion is reduced by 32% compared to wild-type (1.36 mg/h/g liver vs 1.99 mg/h/g liver in wild-type)

• under basal conditions, Apo B81 is cleared more rapidly from plasma than Apo B100

nervous system

hydrocephaly ( J:36426 )

• 2% (4/244) pups develop hydroencephaly by 3-5 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial hypobetalipoproteinemia 2		DOID:0111061	OMIM:605019	J:36426 , J:113171