Ephb4^em1Ktka
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ephb4^em1Ktka
• Name: Eph receptor B4; endonuclease-mediated mutation 1, Kristopher T Kahle
• MGI ID: MGI:7578878
• Synonyms: EphB4 F867L
• Gene: Ephb4 Location: Chr5:137348371-137372784 bp, + strand Genetic Position: Chr5, 76.38 cM
• Alliance: Ephb4^em1Ktka page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Phenylalanine codon 867 (TTT) in exon 15 was changed to leucine (CTT) (p.F867L) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation associated with vein of Galen malformations (VOGMs). (J:342872)

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 Ephb4 Mutation: 43 strains or lines available

References

• Original: J:342872 Zhao S, et al., Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations. Nat Commun. 2023 Nov 17;14(1):7452
• All: 1 reference(s)