Mutations in LMAN1 (lectin, mannose-binding, 1) 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). 

This tm1a mutant strain is derived from KOMP (Knockout Mouse Project) embryonic stem (ES) cell line EPD0807_3_B06. It contains the full original vector insert, incorporating a lacZ and a neomycin resistance gene, and flanks exons 2 and 3 of the Lman1 gene with loxP sites. In contrast with human patients, whose FV and FVIII levels are reduced to approximately 20% normal, and the approximately 50% reduction in Lman1Gt(XST010)Byg homozygous mice (see Stock No. <a href="https://www.jax.org/strain/023835">023835</a>), animals homozygous for this allele show a milder reduction of FV and FVIII to approximately 80% of normal levels. Expression was measured in liver, kidney, heart, and spleen by RT-PCR, qPCR, and western blots by the donating laboratory. Mice homozygous for this hypomorphic mutation are both viable and fertile.

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These Lman1 (lectin, mannose-binding, 1) tm1a targeted mutant mice show a mild (~20%) reduction in coagulation factors V and VIII and are useful in studies of "combined deficiency of coagulation factors V and VIII".

This strain is hosted by NIH's MMRRC, which partners with JAX for the distribution of this and other strains. For additional information and to purchase, please visit the MMRRC site.