Slfn14^em1Nvm
Endonuclease-mediated Allele Detail

Summary

• Symbol: Slfn14^em1Nvm
• Name: schlafen 14; endonuclease-mediated mutation 1, Neil V Morgan
• MGI ID: MGI:7286186
• Synonyms: SLFN14^K208N
• Gene: Slfn14 Location: Chr11:83165936-83177552 bp, - strand Genetic Position: Chr11, 50.3 cM
• Alliance: Slfn14^em1Nvm page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to T missense mutation resulting in a lysine to asparagine substitution at amino acid 208 (K208N). This mutation is homologous to the K219N mutation observed in patients with thrombocytopenia. (J:325381)

Expression

In Structures Affected by this Mutation:

2 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 Slfn14 Mutation: 24 strains or lines available

References

• Original: J:325381 Stapley RJ, et al., Heterozygous mutation SLFN14 K208N in mice mediates species-specific differences in platelet and erythroid lineage commitment. Blood Adv. 2021 Jan 26;5(2):377-390
• All: 1 reference(s)