Analysis Tools|
Allele Symbol Allele Name Allele ID |
F9tm1Emg targeted mutation 1, Erlinda M Gordon MGI:1932244 |
| Summary |
2 genotypes |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 |
• 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
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• 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
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• male hemizygotes exhibit a significantly prolonged bleeding time (>3 hrs) relative to wild-type and carrier female littermates (15 to 20 minutes)
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• 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
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N |
• male hemizygotes display normal liver architecture with no liver pathology
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• 2 of 19 affected males died of umbilical cord bleeding at 2 days of age
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| hemophilia B | DOID:12259 |
OMIM:306900 |
J:48501 | |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 10/29/2024 MGI 6.24 |
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