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
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|
|Allele Type||Targeted (Null/Knockout)|
|Gene Symbol and Name||Mcfd2, multiple coagulation factor deficiency 2|
|Strain of Origin||129S1/SvImJ|
|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.