Etv6^em1Ccpo
Endonuclease-mediated Allele Detail

Summary

• Symbol: Etv6^em1Ccpo
• Name: ets variant 6; endonuclease-mediated mutation 1, Christopher C Porter
• MGI ID: MGI:7572876
• Synonyms: Etv6^mt
• Gene: Etv6 Location: Chr6:134012663-134247121 bp, + strand Genetic Position: Chr6, 64.58 cM, cytoband G2
• Alliance: Etv6^em1Ccpo page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Dominant negative, Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Proline codon 216 (CCA) in exon 5 was changed to leucine (CTA) (p.P216L) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the human p.P214L (c.641C>T) mutation associated with the autosomal dominant syndrome of thrombocytopenia and leukemia predisposition. (J:342734)

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 Etv6 Mutation: 144 strains or lines available

References

• Original: J:342734 Zhou C, et al., Germline ETV6 mutation promotes inflammation and disrupts lymphoid development of early hematopoietic progenitors. Exp Hematol. 2022 Jul 6
• All: 1 reference(s)