Summary | Mutation origin | Mutation description | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	F8tm2Kaz
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:	F8tm2Kaz page

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

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:	24 strains or lines available

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)