Cfap43^em1Pfr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cfap43^em1Pfr
• Name: cilia and flagella associated protein 43; endonuclease-mediated mutation 1, Pierre F Ray
• MGI ID: MGI:6140013
• Synonyms: Cfap43^-
• Gene: Cfap43 Location: Chr19:47723706-47825893 bp, - strand Genetic Position: Chr19, 40.41 cM, cytoband D2
• Alliance: Cfap43^em1Pfr page

The sperm axoneme from Cfap43^em1Pfr/Cfap43^em1Pfr males is fully disorganized

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: Not Specified

Mutation description

Allele Type: Endonuclease-mediated (Null/knockout) Mutation: Intragenic deletion Mutation details: CRISPR/Cas9-mediated mutagenesis created a 4 bp deletion (delAAGG) in exon 21. RT-PCR analysis of testis RNA confirmed the production of an abnormal transcript leading to a premature stop codon. (J:257803)

Cfap44^em1Pfr/Cfap44^em1Pfr and Cfap43^em1Pfr/Cfap43^em1Pfr mice were generated by targeting exon 3 and 21, respectively

Expression

In Structures Affected by this Mutation:

1 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: 69 strains or lines available

References

• Original: J:257803 Coutton C, et al., Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. Nat Commun. 2018 Feb 15;9(1):686
• All: 3 reference(s)