Cfap276^em2.1Fuxi
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cfap276^em2.1Fuxi
• Name: cilia and flagella associated protein 276; endonuclease-mediated mutation 2.1, Fu Xiong
• MGI ID: MGI:6473223
• Synonyms: C1orf194^-
• Gene: Cfap276 Location: Chr3:108444900-108452013 bp, + strand Genetic Position: Chr3, 47.27 cM, cytoband F3
• Alliance: Cfap276^em2.1Fuxi page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: CRISPR/Cas9 technology was used to flank exons 3 and 4 with loxP sites and inserted an FRT-flanked neomycin selection cassette downstream of exon 4 but upstream of the second loxP site. Cre-mediated recombination removed exons 3 and 4 and the neo cassette resulting in a frame-shift. Western blotting confirmed absence of protein in central nervous system tissue and sciatic nerve. (J:295996)

Disease models

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 Cfap276 Mutation: 10 strains or lines available

References

• Original: J:295996 Huang C, et al., C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot-Marie-Tooth disease in a knockout mouse model. Hum Mol Genet. 2020 Aug 29;29(15):2471-2480
• All: 1 reference(s)