Cfap43^em2Fzh
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cfap43^em2Fzh
• Name: cilia and flagella associated protein 43; endonuclease-mediated mutation 2, Feng Zhang
• MGI ID: MGI:6258950
• Gene: Cfap43 Location: Chr19:47723706-47825893 bp, - strand Genetic Position: Chr19, 40.41 cM, cytoband D2
• Alliance: Cfap43^em2Fzh page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutations: Insertion, Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 27 bp deletion plus a 10-bp insertion at the deletion interval in exon 22 resulting in a frame shift mutation that leads to premature translational termination. (J:258613)

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 Cfap43 Mutation: 71 strains or lines available

References

• Original: J:258613 Tang S, et al., Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. Am J Hum Genet. 2017 Jun 1;100(6):854-864
• All: 1 reference(s)