Fbxo10^em1Ccg
Endonuclease-mediated Allele Detail

Summary

• Symbol: Fbxo10^em1Ccg
• Name: F-box protein 10; endonuclease-mediated mutation 1, Christopher C Goodnow
• MGI ID: MGI:6721013
• Synonyms: Fbxo10^E54K
• Gene: Fbxo10 Location: Chr4:45034248-45084555 bp, - strand Genetic Position: Chr4, 23.68 cM
• Alliance: Fbxo10^em1Ccg 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 GAG>AAG mutation in exon 2 resulting in a glutamate to lysine substitution at amino acid 54 (p.E54K). This is a very rare, predicted damaging, missense variant identified in a child with multiple autoimmune disease and possible learning difficulties. This variant has also been found as a heterozygous de novo mutation in a child with autism spectrum disorder. (J:307413)

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 Fbxo10 Mutation: 49 strains or lines available

References

• Original: J:307413 Masle-Farquhar E, et al., Loss-of-function of Fbxo10, encoding a post-translational regulator of BCL2 in lymphomas, has no discernible effect on BCL2 or B lymphocyte accumulation in mice. PLoS One. 2021;16(4):e0237830
• All: 1 reference(s)