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Phenotypes Associated with This Genotype
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apobtm1Mae mutation (2 available); any Apob mutation (118 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• no Apo B100 protein is produced; only the modified, truncated form Apo B81 is present at about 15% of wild-type Apo B100 levels
• Apo B48 levels are reduced to about 25% of wild-type
• HDL particles are markedly reduced in plasma of homozygotes; 80% of reduction in total circulating cholesterol is in HDL cholesterol (males-48 mg/dl, females-23 mg/dl vs wild-type 87 and 68 mg/dl respectively)
• males (60.4 mg/dl) and females (30 mg/dl) have reduced total circulating levels ( by 43 and 66% respectively) compared to wild-type males (105 mg/dl) and females (88 mg/dl)
• Apo B-containing particles are almost completely absent
• Apo B-containing particles are almost completely absent

nervous system
• at E17.5, 1/7 pups had exencephaly from mating of homozygous normocephalic parents
• 27% (45/165) homozygous pups surviving neonatal period develop hydroencephaly by 3-5 weeks of age; incidence is ~2-fold higher in females (38%) vs males (18%)

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

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
MGI 6.12
The Jackson Laboratory