Ttc29em1Fzh
Endonuclease-mediated Allele Detail
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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
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Alliance: |
Ttc29em1Fzh page
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Strain of Origin: |
Not Specified
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Allele Type: |
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Endonuclease-mediated (Null/knockout) |
Mutation: |
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Deletion
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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)
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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 |
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Genotype/ Background: |
| Allelic Composition | Genetic Background | Cell Line(s) |
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Loading... | | | involves: C57BL/6 | |
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Phenotypes: |
Affected Systems |
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cellular
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abnormal sperm end piece morphology
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abnormal sperm midpiece morphology
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abnormal sperm principal piece morphology
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hairpin sperm flagellum
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decreased sperm progressive motility
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asthenozoospermia
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reproductive system
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reproductive system phenotype
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N
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abnormal sperm end piece morphology
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√
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abnormal sperm midpiece morphology
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√
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abnormal sperm principal piece morphology
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√
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hairpin sperm flagellum
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√
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decreased sperm progressive motility
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√
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asthenozoospermia
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√
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reduced male fertility
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√
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Ttc29 Mutation: |
29 strains or lines available
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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) |
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