Ttc29^em1Fzh
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ttc29^em1Fzh
• Name: tetratricopeptide repeat domain 29; endonuclease-mediated mutation 1, Feng Zhang
• MGI ID: MGI:6391112
• Synonyms: Ttc29^mut
• Gene: Ttc29 Location: Chr8:78939926-79120955 bp, + strand Genetic Position: Chr8, 36.86 cM
• Alliance: Ttc29^em1Fzh page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Deletion
• Mutation details: Exon 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

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
Loading...
hm1	Ttc29^em1Fzh/Ttc29^em1Fzh	involves: C57BL/6

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms Sex:
cellular	√
abnormal sperm end piece morphology	√
abnormal sperm midpiece morphology	√
abnormal sperm principal piece morphology	√
hairpin sperm flagellum	√
decreased sperm progressive motility	√
asthenozoospermia	√
reproductive system	√
reproductive system phenotype	N
abnormal sperm end piece morphology	√
abnormal sperm midpiece morphology	√
abnormal sperm principal piece morphology	√
hairpin sperm flagellum	√
decreased sperm progressive motility	√
asthenozoospermia	√
reduced male fertility	√

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)