Aff3^em1Xen
Endonuclease-mediated Allele Detail

Summary

• Symbol: Aff3^em1Xen
• Name: AF4/FMR2 family, member 3; endonuclease-mediated mutation 1, Taconic Biosciences
• MGI ID: MGI:7266450
• Synonyms: Aff3^A233T
• Gene: Aff3 Location: Chr1:38216407-38704036 bp, - strand Genetic Position: Chr1, 16.58 cM
• Alliance: Aff3^em1Xen page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/cas9 mediated recombination using guide RNA (GGTGGATGCACGCCGGTTA) introduce an A233T mutation and a second silent mutation to create an AleI restriction site. (J:317476)

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:317476 Voisin N, et al., Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. Am J Hum Genet. 2021 May 6;108(5):857-873
• All: 1 reference(s)