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Allele : Cfap43<em1Fzh> cilia and flagella associated protein 43; endonuclease-mediated mutation 1, Feng Zhang

Primary Identifier	MGI:6258949	Allele Type	Endonuclease-mediated
Attribute String	Not Specified	Gene	Cfap43
Strain of Origin	Not Specified	Is Recombinase	false
Is Wild Type	false

molecularNote

CRISPR/Cas9 technology generated a 2 bp deletion in exon 22 resulting in a frame shift mutation that leads to premature translational termination.

mutations:
Intragenic deletion

earliestPublication:
Tang S, et al. (2017) Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. Am J Hum Genet 100(6):854-864

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

0 Carried By

0 Driven By

3 Publication categories

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