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Phenotypes Associated with This Genotype
Genotype
MGI:3688001
Allelic
Composition
Apobtm1Mae/Apob+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apobtm1Mae mutation (2 available); any Apob mutation (86 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• 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)
• total cholesterol levels are 18% lower in males and 24% lower in females compared to wild-type levels
• 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
• 2% (4/244) pups develop hydroencephaly by 3-5 weeks of age

Mouse Models of Human Disease
OMIM ID Ref(s)
Hypobetalipoproteinemia, Familial, 2; FHBL2 605019 J:36426 , J:113171


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory