Aff3^em1Andg
Endonuclease-mediated Allele Detail

Summary

• Symbol: Aff3^em1Andg
• Name: AF4/FMR2 family, member 3; endonuclease-mediated mutation 1, Guillaume Andrey
• MGI ID: MGI:7266365
• Synonyms: Aff3^del
• Gene: Aff3 Location: Chr1:38216407-38704036 bp, - strand Genetic Position: Chr1, 16.58 cM
• Alliance: Aff3^em1Andg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:261708
• Parent Cell Line: G4 (ES Cell)
• Strain of Origin: (129S6/SvEvTac x C57BL/6NCrl)F1

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/cas9 mediated recombination induced a 353 kb deletion spanning exons 4 to 12. The breakpoints were designed to be homologous to those in a patient with KINSSHIP syndrome (OMIM:619297). (J:261708)

Expression

In Structures Affected by this Mutation:

6 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 Aff3 Mutation: 53 strains or lines available

References

• Original: J:261708 Kraft K, et al., Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice. Cell Rep. 2015 Feb 4
• All: 2 reference(s)