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Cfap44em1Pfr
Endonuclease-mediated Allele Detail
Summary
Symbol: Cfap44em1Pfr
Name: cilia and flagella associated protein 44; endonuclease-mediated mutation 1, Pierre F Ray
MGI ID: MGI:6140014
Synonyms: Cfap44-
Gene: Cfap44  Location: Chr16:44215159-44302791 bp, + strand  Genetic Position: Chr16, 28.72 cM
Alliance: Cfap44em1Pfr page
Sperm from Cfap44em1Pfr/Cfap44em1Pfr males reveal multiple structural axonemal defects

Show the 3 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Endonuclease-mediated (Null/knockout)
Mutation:    Insertion
 
Mutation detailsCRISPR/Cas9-mediated mutagenesis created a 7 bp insertion (InsTCAGATA) in exon 3. RT-PCR analysis of testis RNA confirmed the production of an abnormal transcript leading to a premature stop codon. (J:257803)
Cfap44em1Pfr/Cfap44em1Pfr and Cfap43em1Pfr/Cfap43em1Pfr mice were generated by targeting exon 3 and 21, respectively
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Cfap44 Mutation:  84 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory