Homozygous Mcfd2 knockout mice replicate the phenotype of a rare autosomal recessive human bleeding disorder called "combined deficiency of coagulation factors V and VIII".
David Ginsburg, University of Michigan
Genetic Background | Generation |
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|
Allele Type | Gene Symbol | Gene Name |
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Targeted (Null/Knockout) | Mcfd2 | multiple coagulation factor deficiency 2 |
Mutations in MCFD2 (multiple coagulation factor deficiency 2) cause a rare autosomal recessive bleeding disorder called "combined deficiency of coagulation factors V and VIII". Human patients with this disease have low levels of both coagulation factor V (FV or F5) and factor VIII (FVIII or F8).
Homozygous Mcfd2 knockout mice replicate the human phenotype, as they have decreases in FV and FVIII to approximately 30-50% of the wild type level.
Exons 2 and 3 of the targeted gene were replaced with a neomycin resistance cassette via homologous recombination in (129X1/SvJ x 129S1/Sv)F1- Kitl+-derived R1 embryonic stem (ES) cells. This strain has been backcrossed to C57BL/6J for more than 10 generations by the donating laboratory.
Allele Name | targeted mutation 1, David Ginsburg |
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Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | |
Gene Symbol and Name | Mcfd2, multiple coagulation factor deficiency 2 |
Gene Synonym(s) | |
Strain of Origin | 129S1/SvImJ |
Chromosome | 17 |
Molecular Note | Exons 2 and 3 of the targeted gene were replaced with a neomycin resistance cassette via homologous recombination. |
Homozygotes and heterozygotes are viable and fertile. The donating laboratory reports that there are no significant bleeding problems in homozygotes when collecting samples for genotyping.
When using the B6.129-Mcfd2tm1Dgi/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #024426 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
---|---|---|
Heterozygous for Mcfd2<tm1Dgi> |
Frozen Mouse Embryo | B6.129-Mcfd2<tm1Dgi>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.129-Mcfd2<tm1Dgi>/J Frozen Embryo | $2595.00 |
Frozen Mouse Embryo | B6.129-Mcfd2<tm1Dgi>/J Frozen Embryo | $3373.50 |
Frozen Mouse Embryo | B6.129-Mcfd2<tm1Dgi>/J Frozen Embryo | $3373.50 |
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