Mouse Genome Informatics
involves: 129P2/OlaHsd * C57BL/6J
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
Hypobetalipoproteinemia, Familial, 2; FHBL2 605019 J:36426