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Phenotypes Associated with This Genotype
Genotype
MGI:3688000
Allelic
Composition
Apobtm1Mae/Apobtm1Mae
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 (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• no Apo B100 protein is produced; only the modified, truncated form Apo B81 is present at about 15% of wild-type Apo B100 levels (J:36426)
• Apo B48 levels are reduced to about 25% of wild-type (J:36426)
• no Apo B100 protein is produced; only the modified, truncated form Apo B81 is present at about 15% of wild-type Apo B100 levels (J:36426)
• Apo B48 levels are reduced to about 25% of wild-type (J:36426)
• 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) (J:36426)
• 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) (J:36426)
• 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) (J:36426)
• 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) (J:36426)
• Apo B-containing particles are almost completely absent (J:36426)
• Apo B-containing particles are almost completely absent (J:36426)
• Apo B-containing particles are almost completely absent (J:36426)
• Apo B-containing particles are almost completely absent (J:36426)

nervous system
• at E17.5, 1/7 pups had exencephaly from mating of homozygous normocephalic parents (J:36426)
• at E17.5, 1/7 pups had exencephaly from mating of homozygous normocephalic parents (J:36426)
• 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%) (J:36426)
• 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%) (J:36426)

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


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
01/26/2016
MGI 6.02
The Jackson Laboratory