Phenotypes associated with this allele

• Allele Symbol: Ubiad1^tm1.1Thka
• Allele Name: targeted mutation 1.1, Toshio Okano
• Allele ID: MGI:5707728
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ubiad1^tm1.1Thka/Ubiad1^tm1.1Thka	C57BL/6-Ubiad1^tm1.1Thka	MGI:5707764
ht2	Ubiad1^tm1.1Thka/Ubiad1^+	C57BL/6-Ubiad1^tm1.1Thka	MGI:5707765

Genotype
MGI:5707764

hm1

• Allelic Composition: Ubiad1^tm1.1Thka/Ubiad1^tm1.1Thka
• Genetic Background: C57BL/6-Ubiad1^tm1.1Thka

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

mortality/aging

embryonic lethality, complete penetrance ( J:221005 )

• although present at E7.5, no mice are present at E10.5

• however, treatment with menaquinone 4 or coenzyme Q10 extends lifespan to E15.5 in some embryos and P1 in others

embryo

abnormal ectoderm development ( J:221005 )

• absence of the constriction marking the extraembryonic-embryonic ectoderm border

failure to gastrulate ( J:221005 )

decreased embryo size ( J:221005 )

• at E7.5

• however, treatment with MK-4 rescues embryo size

absent mesoderm ( J:221005 )

failure of primitive streak formation ( J:221005 )

homeostasis/metabolism

abnormal vitamin homeostasis ( J:221005 )

• mice are unable to synthesize menaquinone 4 (MK-4)

• however, mice are able to synthesize coenzyme Q9 (CoQ9)

growth/size/body

decreased embryo size ( J:221005 )

• at E7.5

• however, treatment with MK-4 rescues embryo size

Genotype
MGI:5707765

ht2

• Allelic Composition: Ubiad1^tm1.1Thka/Ubiad1⁺
• Genetic Background: C57BL/6-Ubiad1^tm1.1Thka

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:221005 )

N • mice exhibit normal serum levels of calcium, phosphorus, glucose, LDL cholesterol and triglycerides

increased circulating cholesterol level ( J:221005 )

• total and free at 28 weeks

increased circulating HDL cholesterol level ( J:221005 )

• at 28 weeks

abnormal vitamin homeostasis ( J:221005 )

• tissue levels of menaquinone 4 (MK-4) and its epoxide are half of wild-type at P28

• reduced MK-4 synthetic activity in the cerebrum and mouse embryonic fibroblasts

• however, coenzyme Q9 and E10 levels are normal