Phenotypes Associated with This Genotype

Genotype
MGI:3662853

• Allelic Composition: F9^tm1Emg/Y
• Genetic Background: involves: 129S/SvEv * C57BL/6J

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:48501 )

♂ • 2 of 19 affected males died at 2 days of age as a result of umbilical cord bleeding

♂ • however, most male hemizygotes are viable, fertile and indistinguishable from carrier or wild-type littermates on the basis of size and activity

homeostasis/metabolism

abnormal blood coagulation ( J:48501 )

♂ • male hemizygotes exhibit a mean plasma F. IX titer of 2.8 U/dL relative to 92, 69, and 35 U/dL obtained in wild-type littermates (male and female), wild-type females, and female carriers, respectively

increased bleeding time ( J:48501 )

♂ • male hemizygotes exhibit a significantly prolonged bleeding time (>3 hrs) relative to wild-type and carrier female littermates (15 to 20 minutes)

cardiovascular system

hemorrhage ( J:48501 )

♂ • 7 of 19 affected male hemizygotes died of excessive blood loss after tail snipping, and 2 affected males died at 2 days of age of umbilical cord bleeding; the remaining 10 affected males were still alive at 4 months of age

liver/biliary system

liver/biliary system phenotype ( J:48501 )

♂N • male hemizygotes display normal liver architecture with no liver pathology

embryo

umbilical cord hemorrhage ( J:48501 )

♂ • 2 of 19 affected males died of umbilical cord bleeding at 2 days of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hemophilia B		DOID:12259	OMIM:306900	J:48501