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F8tm1Kaz
Targeted Allele Detail
Summary
Symbol: F8tm1Kaz
Name: coagulation factor VIII; targeted mutation 1, Haig H Kazazian Jr
MGI ID: MGI:2179981
Synonyms: E-16, FVIII KO, HemA, MFVIII-16
Gene: F8  Location: ChrX:74216321-74426221 bp, - strand  Genetic Position: ChrX, 38.17 cM, cytoband A7-B
Alliance: F8tm1Kaz 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, Intragenic deletion
 
Mutation detailsA neomycin resistance cassette replaced 293 bp of sequence, including 7 bp at the 3' end of exon 16 and 286 bp at the 5' end of intron 16. Two different activity assays indicated that the mutated allele produced protein with levels of activity less than 1% of wild-type levels. (J:24941)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 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:  88 reference(s)

Contributing Projects:
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
11/12/2024
MGI 6.24
The Jackson Laboratory