Phenotypes associated with this allele

• Allele Symbol: Apob^tm1Mae
• Allele Name: targeted mutation 1, Nobuyo Maeda
• Allele ID: MGI:3665449
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Apob^tm1Mae/Apob^tm1Mae	involves: 129P2/OlaHsd * C57BL/6J	MGI:3688000
ht2	Apob^tm1Mae/Apob^+	involves: 129P2/OlaHsd * C57BL/6J	MGI:3688001

Genotype
MGI:3688000

hm1

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

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

homeostasis/metabolism

abnormal circulating HDL cholesterol level ( 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)

decreased circulating cholesterol level ( 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)

decreased circulating LDL cholesterol level ( J:36426 )

• Apo B-containing particles are almost completely absent

decreased circulating VLDL cholesterol level ( J:36426 )

• Apo B-containing particles are almost completely absent

abnormal circulating apolipoprotein level ( 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

• Apo B48 levels are reduced to about 25% of wild-type

nervous system

hydrocephaly ( 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%)

exencephaly ( J:36426 )

• at E17.5, 1/7 pups had exencephaly from mating of homozygous normocephalic parents

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

Genotype
MGI:3688001

ht2

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

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