F8^tm2Kaz
Targeted Allele Detail

Summary

• Symbol: F8^tm2Kaz
• Name: coagulation factor VIII; targeted mutation 2, Haig H Kazazian Jr
• MGI ID: MGI:2179968
• Synonyms: E17, MFVIII-17
• Gene: F8 Location: ChrX:74216321-74426221 bp, - strand Genetic Position: ChrX, 38.17 cM, cytoband A7-B
• Alliance: F8^tm2Kaz page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:24941
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Single point mutation
• Mutation details: Insertion of a neomycin resistance cassette into exon 17 and introduction of a single nucleotide substitution at a site 19 bp 3' to the 5' end of the exon. Two different activity assays indicated that the mutated allele produced protein with levels of activity less than 1% of wild-type levels. (J:24941)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any F8 Mutation: 25 strains or lines available

References

• Original: J:24941 Bi L, et al., Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A [letter]. Nat Genet. 1995 May;10(1):119-21
• All: 19 reference(s)