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Ttc29em1Fzh
Endonuclease-mediated Allele Detail
Summary
Symbol: Ttc29em1Fzh
Name: tetratricopeptide repeat domain 29; endonuclease-mediated mutation 1, Feng Zhang
MGI ID: MGI:6391112
Synonyms: Ttc29mut
Gene: Ttc29  Location: Chr8:78939926-79120955 bp, + strand  Genetic Position: Chr8, 36.86 cM
Alliance: Ttc29em1Fzh page
Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Endonuclease-mediated (Null/knockout)
Mutation:    Deletion
 
Mutation detailsExon 12 sequence chr8:78333554-78333613 (GRCm38/mm10) was targeted by an sgRNA using CRISPR/Cas9 technology. A single C nucleotide deletion (c.1128del) results in a frameshift after tyrosine 376 and a premature stop codon mutation shortly after, that is similar the p.Tyr369* mutation found in patients suffering from multiple morphological abnormalities of the flagella (MMAF; a severe type of asthenoteratospermia). In spermatozoa of homozygous mice, mRNA levels from this allele are significantly reduced and peptides near absent. (J:283265)
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 Ttc29 Mutation:  29 strains or lines available
References
Original:  J:283265 Liu C, et al., Bi-allelic Mutations in TTC29 Cause Male Subfertility with Asthenoteratospermia in Humans and Mice. Am J Hum Genet. 2019 Dec 5;105(6):1168-1181
All:  1 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
10/29/2024
MGI 6.24
The Jackson Laboratory