Serpinc1^tm1Dwr
Targeted Allele Detail

Summary

• Symbol: Serpinc1^tm1Dwr
• Name: serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1; targeted mutation 1, Mieke Dewerchin
• MGI ID: MGI:3692385
• Synonyms: AT^m
• Gene: Serpinc1 Location: Chr1:160806153-160830113 bp, + strand Genetic Position: Chr1, 69.75 cM
• Alliance: Serpinc1^tm1Dwr page

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 details: Exon 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)

Disease models

Expression

In Structures Affected by this Mutation:

13 anatomical structure(s)

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: 28 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)