B6.129-Mcfd2^tm1Dgi/J

Stock number: 024426
Research areas: Hematological Research

Description

Homozygous Mcfd2 knockout mice replicate the phenotype of a rare autosomal recessive human bleeding disorder called "combined deficiency of coagulation factors V and VIII".

Detailed description

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.

Development

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

Symbol: Mcfd2^tm1Dgi
Name: targeted mutation 1, David Ginsburg
MGI accession ID: MGI:5544759
Generation method: Targeted
Attributes: Null/Knockout
Marker symbol: Mcfd2
Marker name: multiple coagulation factor deficiency 2
Chromosome: 17
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.