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Allele Symbol Allele Name Allele ID |
Cfap69tm1b(KOMP)Wtsi targeted mutation 1b, Wellcome Trust Sanger Institute MGI:5548820 |
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| Summary |
2 genotypes
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Data Sources
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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IMPC - UCD
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IMPC - UCD
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IMPC - UCD
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 N |
• females produce offspring at a rate similar to that of wild-type females
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• all epididymal sperm exhibit severe morphology defects that affect the entire flagellum
• epididymal sperm flagella frequently show splaying into multiple thin filaments along the full length of the principal piece or in certain regions; filaments show a variety of conformations, including coiled, looped, and tangled
• some epididymal sperm exhibit unusual structures perforated with thin filaments in place of their flagellum
• TEM analysis of testicular sperm shows flagellum components in a severe state of disarray within bodies of cytoplasm
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• outer dense fibers (ODFs) are irregular in number and organization; moreover, ODFs show coiled and tangled arrangements in longitudinal sections
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• split microtubule doublets are also observed
• TEM analysis of testicular sperm shows that axoneme organization is severely disrupted
• although doublet and singlet microtubules are still often found to associate with ODFs, their numbers and arrangement are variable
• large numbers of singlet microtubules, likely from the manchette, are frequently observed
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• thickness and length of the midpiece is variable
• outer dense fibers (ODFs) are irregular in number and organization; moreover, ODFs show coiled and tangled arrangements in longitudinal sections
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• although some mitochondria appear to localize to regions normally corresponding to the midpiece, many mitochondria are found throughout the cytoplasm
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• fibrous sheath is disorganized and largely absent
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• some sperm lack a flagellum
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• both midpiece and principal piece are shortened, resulting in overall shorter flagella
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• a subset of sperm display abnormal head morphologies ranging from mild to severe
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• abnormally localized manchette microtubules are observed
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• cauda epididymal sperm are immotile
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• although sperm with abnormal flagella can be found in the lumen of seminiferous tubules, long flagella are noticeably absent from the lumen
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• abnormal organization of all sperm flagellum components indicates a failure of sperm flagellum development during spermiogenesis
• however, major processes of the spermatogenic cycle and some spermiogenesis processes, including meiosis, acrosome development and nuclear condensation and elongation, appear normal
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• 6-wk-old or older males fail to produce any offspring over 3 months of breeding with age-matched wild-type females
• however, mating behavior is normal
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• all epididymal sperm exhibit severe morphology defects that affect the entire flagellum
• epididymal sperm flagella frequently show splaying into multiple thin filaments along the full length of the principal piece or in certain regions; filaments show a variety of conformations, including coiled, looped, and tangled
• some epididymal sperm exhibit unusual structures perforated with thin filaments in place of their flagellum
• TEM analysis of testicular sperm shows flagellum components in a severe state of disarray within bodies of cytoplasm
|
|
|
• outer dense fibers (ODFs) are irregular in number and organization; moreover, ODFs show coiled and tangled arrangements in longitudinal sections
|
|
|
• TEM analysis of testicular sperm shows that axoneme organization is severely disrupted
• although doublet and singlet microtubules are still often found to associate with ODFs, their numbers and arrangement are variable
• split microtubule doublets are also observed
• large numbers of singlet microtubules, likely from the manchette, are frequently observed
|
|
|
• thickness and length of the midpiece is variable
• outer dense fibers (ODFs) are irregular in number and organization; moreover, ODFs show coiled and tangled arrangements in longitudinal sections
|
|
|
• although some mitochondria appear to localize to regions normally corresponding to the midpiece, many mitochondria are found throughout the cytoplasm
|
|
|
• fibrous sheath is disorganized and largely absent
|
|
|
• some sperm lack a flagellum
|
|
|
• both midpiece and principal piece are shortened, resulting in overall shorter flagella
|
|
|
• a subset of sperm display abnormal head morphologies ranging from mild to severe
|
|
|
• abnormally localized manchette microtubules are observed
|
|
|
• cauda epididymal sperm are immotile
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|
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• although sperm with abnormal flagella can be found in the lumen of seminiferous tubules, long flagella are noticeably absent from the lumen
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| spermatogenic failure 24 | DOID:0111929 |
OMIM:617959 |
J:263440 | |
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 05/14/2024 MGI 6.23 |
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