Cfap44^em1Fzh
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cfap44^em1Fzh
• Name: cilia and flagella associated protein 44; endonuclease-mediated mutation 1, Feng Zhang
• MGI ID: MGI:6258948
• Gene: Cfap44 Location: Chr16:44215159-44302791 bp, + strand Genetic Position: Chr16, 28.72 cM
• Alliance: Cfap44^em1Fzh page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 14-bp deletion in exon 15 resulting in a frame shift mutation that leads to premature translational termination. Quantitative PCR indicates that mRNA level in homozygotes is reduced to about 16% of that in wild-type mice. (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 Cfap44 Mutation: 84 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)