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Serpinc1tm1Dwr
Targeted Allele Detail
Nomenclature
Symbol: Serpinc1tm1Dwr
Name: serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1; targeted mutation 1, Mieke Dewerchin
MGI ID: MGI:3692385
Synonyms: ATm
Gene: Serpinc1  Location: Chr1:160978585-161005863 bp, + strand  Genetic Position: Chr1, 69.75 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:115658
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutation:    Nucleotide substitutions
 
Mutation detailsExon 2 was replaced with a mutant exon 2 encoding an R48C substitution, linked to heterozygous type II HBS deficiency patients, and an additional silent mutation creating a SacI site. (J:115658)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 14 anatomical structures
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 Serpinc1 Mutation:  15 strains or lines available
References
Original:  J:115658 Dewerchin M, et al., Life-threatening thrombosis in mice with targeted Arg48-to-Cys mutation of the heparin-binding domain of antithrombin. Circ Res. 2003 Nov 28;93(11):1120-6
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory