F5^em1Alir
Endonuclease-mediated Allele Detail

Summary

• Symbol: F5^em1Alir
• Name: coagulation factor V; endonuclease-mediated mutation 1, Antonio Liras
• MGI ID: MGI:8250822
• Gene: F5 Location: Chr1:163979407-164047846 bp, + strand Genetic Position: Chr1, 71.46 cM
• Alliance: F5^em1Alir page

Mutation origin

• Strain of Origin: (C57BL/6JOlaHsd x CBA/CaOlaHsd)F1

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a C to T (ACG to ATG codon) change resulting in a threonine to methionine substitution at amino acid 1857 (p.T1857M). This is a missense mutation which in humans produces a mild factor V deficiency disease phenotype. In addition, a C to T (AAC to AAT) change at position 5675 in the PAM was introduced to prevent target recognition once the mutation was introduced. (J:369439)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 F5 Mutation: 159 strains or lines available

References

• Original: J:369439 De Pablo-Moreno JA, et al., Development of a novel and viable knock-in factor V deficiency murine model: Utility for an ultra-rare disease. PLoS One. 2025;20(6):e0321864
• All: 1 reference(s)