|
|
| Nomenclature |
|
Symbol:
|
F10tm2Ccmt
|
|
Name:
|
coagulation factor X;
targeted mutation 2, Katherine A High
|
|
MGI ID: |
MGI:3760000 |
|
Synonyms: |
F10-Friuli |
|
Gene:
|
F10
Location:
Chr8:13037308-13056676 bp, + strand
Genetic Position: Chr8,
5.73 cM
|
|
Mutation origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:145092
|
|
Parent Cell Line:
| E14TG2a (ES Cell) |
|
Strain of Origin:
|
129P2/OlaHsd
|
|
Mutation description |
|
Allele
Type: | |
Targeted (knock-in) |
|
Mutations: | |
Insertion, Nucleotide substitutions |
| |
|
Mutation details: 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)
|
|
Inheritance: | |
Recessive |
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
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 F10 Mutation:
|
4 strains or lines available |
|
| References |
|
Original: |
J:145092
Tai SJ et al.,
"A viable mouse model of factor X deficiency provides evidence for maternal transfer of factor X."
J Thromb Haemost 2008 Feb;6(2):339-45
|
|
All: |
1 reference(s)
|
|