Phenotypes associated with this allele

• Allele Symbol: F8^tm1Kaz
• Allele Name: targeted mutation 1, Haig H Kazazian Jr
• Allele ID: MGI:2179981
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	F8^tm1Kaz/F8^tm1Kaz	involves: 129S4/SvJae * C57BL/6	MGI:2449543
cx2	F8^tm1Kaz/Y Tg(Alb-F8*R593C)T4Mcal/0	involves: 129S4/SvJae * C57BL/6 * FVB/N	MGI:5304184
ot3	F8^tm1Kaz/Y	involves: 129S4/SvJae * C57BL/6	MGI:2449544

Genotype
MGI:2449543

hm1

• Allelic Composition: F8^tm1Kaz/F8^tm1Kaz
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:36698 )

♀ • 2/3 mice die within 2 hours of tail snipping from excessive bleeding

reproductive system

reproductive system phenotype ( J:36698 )

♀N • females exhibit normal fertility and pregnancy

homeostasis/metabolism

abnormal blood coagulation ( J:36698 )

♀ • 2/3 mice die within 2 hours of tail snipping from excessive bleeding

hematopoietic system

hematopoietic system phenotype ( J:36698 )

♀N • males exhibit no spontaneous bleeding, illness or reduction in activity up to 1 year of age

Genotype
MGI:5304184

cx2

• Allelic Composition: F8^tm1Kaz/Y; Tg(Alb-F8*R593C)T4Mcal/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB/N

immune system

immune system phenotype ( J:178969 )

♂N • mutants do not develop anti-factor VIII antibodies following administration of factor VIII as seen in F8^tm1Kaz/Y males

♂N • no factor VIII specific antibody secreting cells or memory B cells are present in mice and no factor VIII specific T cell responses are seen, indicating that mutants are tolerant to intravenously administered factor VIII

Genotype
MGI:2449544

ot3

• Allelic Composition: F8^tm1Kaz/Y
• Genetic Background: involves: 129S4/SvJae * C57BL/6

mortality/aging

increased susceptibility to induced morbidity/mortality ( J:24941 , J:36698 )

♂ • mice exhibit a reduced ability to clot blood upon tail cutting, with most animals dying within 2 hours of tail snipping unless cauterized (J:24941)

♂ • 2/3 males die within 2 hours of tail snipping from excessive bleeding (J:36698)

homeostasis/metabolism

abnormal blood coagulation ( J:24941 , J:36698 )

♂ • male hemizygous mice exhibit hemophilia (J:24941)

♂ • mice exhibit a reduced ability to clot blood upon tail cutting, with most animals dying within 2 hours of tail snipping unless cauterized (J:24941)

♂ • plasma from mutant mice exhibits a prolonged clotting time compared to controls (J:24941)

♂ • 2/3 males die within 2 hours of tail snipping from excessive bleeding (J:36698)

hematopoietic system

hematopoietic system phenotype ( J:24941 , J:36698 )

♂N • no spontaneous bleeding is observed into joints or soft tissues up to 12 weeks of age (J:24941)

♂N • males exhibit no spontaneous bleeding, illness or reduction in activity up to 1 year of age (J:36698)

immune system

abnormal immune tolerance ( J:178969 )

♂ • mutants develop anti-factor VIII antibodies following administration of factor VIII

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
factor VIII deficiency		DOID:12134	OMIM:306700	J:24941