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Exon 8 contains the missense mutation encoding Factor X Friuli (Pro343Ser). This allele was generated by targeting the "socket" F10tm1Ccmt allele with a "plug" that introduced the Friuli mutation and simultaneously eliminated the neomycin resistance gene and reconstituted the Hprt gene, allowing selection of correctly targeted ES cells for HAT resistance and G418 sensitivity. Extrinsic and intrinsic protein activity is decreased to 5% of wild-type. (J:145092)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
