All Phenotypes F9<tm1Emg> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	F9^tm1Emg/F9⁺	involves: 129S/SvEv * C57BL/6J	MGI:2175872
ot2	F9^tm1Emg/Y	involves: 129S/SvEv * C57BL/6J	MGI:3662853

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
F9^tm1Emg mutation (0 available); any F9 mutation (8 available)

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

homeostasis/metabolism

abnormal blood coagulation ( J:48501 )

• female carriers are viable, fertile and overtly normal on the basis of size, activity, and liver histology with no significant changes in clotting times after tail snipping

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

♀	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

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