Cfap418^em3Jyang
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cfap418^em3Jyang
• Name: cilia and flagella associated protein 418; endonuclease-mediated mutation 3, Jun Yang
• MGI ID: MGI:6157831
• Synonyms: C8orf37^del
• Gene: Cfap418 Location: Chr4:10874498-10899425 bp, + strand Genetic Position: Chr4, 4.85 cM
• Alliance: Cfap418^em3Jyang page

Mutation origin

• Strain of Origin: CBA x C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: A large deletion encompassing exons 1 - 5 including the translation start codon was generated through CRISPR/cas9 mediated recombination. Immunoblot analysis demonstrated the absence of protein expression in homozygous mice. (J:259133)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Cfap418 Mutation: 14 strains or lines available

Notes

founders do not carry Crb1

References

• Original: J:259133 Sharif AS, et al., C8ORF37 Is Required for Photoreceptor Outer Segment Disc Morphogenesis by Maintaining Outer Segment Membrane Protein Homeostasis. J Neurosci. 2018 Mar 28;38(13):3160-3176
• All: 2 reference(s)