Phenotypes associated with this allele

• Allele Symbol: Apob⁺
• Allele Name: wild type
• Allele ID: MGI:1857624
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Apob^tm1Unc/Apob^+	involves: 129P2/OlaHsd * C57BL/6J	MGI:2660705
ht2	Apob^tm1Mae/Apob^+	involves: 129P2/OlaHsd * C57BL/6J	MGI:3688001
ht3	Apob^tm1Meh/Apob^+	involves: 129P2/OlaHsd * C57BL/6NCrl	MGI:3582663
ht4	Apob^tm1Bres/Apob^+	involves: 129S4/SvJae * C57BL/6J	MGI:2661773
ht5	Apob^tm3Sgy/Apob^+	involves: 129S7/SvEvBrd * C57BL/6	MGI:2660895
ht6	Apob^tm1Zc/Apob^+	involves: 129/Sv * C57BL/6	MGI:2663774
ht7	Apob^tm1.1Zc/Apob^+	involves: 129X1/SvJ * C57BL/6	MGI:2663451

Genotype
MGI:2660705

ht1

• Allelic Composition: Apob^tm1Unc/Apob⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

homeostasis/metabolism

abnormal circulating cholesterol level ( J:16352 )

• reduced plasma concentration

decreased circulating HDL cholesterol level ( J:16352 )

decreased circulating triglyceride level ( J:16352 )

• reduced plasma concentration

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:113171 , J:36426 )

• total plasma ApoB levels in males are decreased by 38% in males and by 32% in females (J:113171)

• amount of plasma Apo B81 protein is about 10% of wild-type Apo B100 levels (J:36426)

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

Genotype
MGI:3582663

ht3

• Allelic Composition: Apob^tm1Meh/Apob⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6NCrl

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:99059 )

N • on a normal chow, Western-type high fat, or atherogenic diet no significant differences in plasma lipids levels or lipoprotein distribution are detected

Genotype
MGI:2661773

ht4

• Allelic Composition: Apob^tm1Bres/Apob⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

reproductive system

oligozoospermia ( J:35836 )

♂ • mild reduction in sperm count

♂ • decreased sperm viability was observed in vitro

asthenozoospermia ( J:35836 )

♂ • approximately 80% of sperm were immotile

♂ • motile sperm that bound the zona pellucida became immotile

reduced male fertility ( J:35836 )

♂ • 60% were unable to produce offspring

impaired sperm penetration of zona pellucida ( J:35836 )

♂ • sperm could bind but not penetrate the zona pellucida

cellular

oligozoospermia ( J:35836 )

♂ • mild reduction in sperm count

♂ • decreased sperm viability was observed in vitro

asthenozoospermia ( J:35836 )

♂ • approximately 80% of sperm were immotile

♂ • motile sperm that bound the zona pellucida became immotile

Genotype
MGI:2660895

ht5

• Allelic Composition: Apob^tm3Sgy/Apob⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Accumulation of lipid droplets in the yolk sac visceral endodermal cells of Apob^tm3Sgy/Apob⁺ and Apob^tm3Sgy/Apob^tm3Sgy mice

embryo

abnormal embryo development ( J:84977 )

• cholesterol concentrations in intraembryonic tissues at E9.5-10.5 were reduced

abnormal visceral yolk sac endoderm morphology ( J:84977 )

• yolk sac visceral endodermal cells at E9.5 had reduced amounts of lipoprotein in their Golgi apparatus

• these cells show an intermediate level of accumulation of cytosolic lipid droplets at their basal surface

• these cells contain reduced lipoproteins in their secretory vesicles

homeostasis/metabolism

abnormal cholesterol homeostasis ( J:23315 )

• markedly reduced plasma concentrations of beta-lipoprotein

• reduced plasma concentrations of apolipoprotein-B

• protection from diet-induced hypercholesterolemia

decreased circulating cholesterol level ( J:23315 )

• on a chow diet, plasma concentration was reduced by 19% compared to wild-type controls

decreased circulating HDL cholesterol level ( J:23315 )

Genotype
MGI:2663774

ht6

• Allelic Composition: Apob^tm1Zc/Apob⁺
• Genetic Background: involves: 129/Sv * C57BL/6

homeostasis/metabolism

decreased circulating cholesterol level ( J:76047 )

decreased circulating HDL cholesterol level ( J:76047 )

decreased circulating LDL cholesterol level ( J:76047 )

decreased circulating VLDL cholesterol level ( J:76047 )

decreased circulating triglyceride level ( J:76047 )

liver/biliary system

hepatic steatosis ( J:76047 )

Genotype
MGI:2663451

ht7

• Allelic Composition: Apob^tm1.1Zc/Apob⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6

homeostasis/metabolism

decreased circulating LDL cholesterol level ( J:65191 )

decreased circulating VLDL cholesterol level ( J:65191 )

liver/biliary system

hepatic steatosis ( J:65191 )