Cfap276^em1Fuxi
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cfap276^em1Fuxi
• Name: cilia and flagella associated protein 276; endonuclease-mediated mutation 1, Fu Xiong
• MGI ID: MGI:6390920
• Synonyms: C1orf194^I121N
• Gene: Cfap276 Location: Chr3:108444900-108452013 bp, + strand Genetic Position: Chr3, 47.27 cM, cytoband F3
• Alliance: Cfap276^em1Fuxi page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: A T>A substitution (c.362T>A) was introduced using CRISPR/Cas9 technology. This mutation changes isoleucine codon 121 into a asparagine codon (p.I121N), mimicking the p.I122N mutation found in Charcot-Marie-Tooth Disease patients. (J:283448)

Expression

In Mice Carrying this Mutation:	18 assay results
In Structures Affected by this Mutation:	3 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 Cfap276 Mutation: 10 strains or lines available

References

• Original: J:283448 Sun SC, et al., Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease. Brain. 2019 Aug 1;142(8):2215-2229
• All: 1 reference(s)