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Allele Symbol Allele Name Allele ID |
Akap4tm1Eddy targeted mutation 1, Edward M Eddy MGI:2684287 |
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| Summary |
2 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• hemizygous mutant males display sperm flagellum abnormalities
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• the distal tip of mutant sperm flagella is sometimes curled or splayed apart in several fine filaments
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• the size and integrity of mutant mitochondrial sheaths is reduced
• however, other cytoskeletal structures, the outer dense fibers and axoneme remain intact
• although a fibrous sheath anlagen is formed, the definitive fibrous sheath fails to develop fully, and proteins usually associated with the fibrous sheath are absent or substantially reduced in amount
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• the principle piece of mutant sperm flagella is reduced in diameter relative to that of wild-type flagella
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• mutant sperm flagella are sometimes curled at the tip
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• although the midpiece length of mutant cauda sperm flagella is similar to that of wild-type mice, the length of the remaining flagellum is ~50% of wild-type sperm
• in addition, mutant caput sperm flagella are shorter than wild-type
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• all hemizygous mutant males are infertile
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• although GAPDS (glyceraldehyde 3-phosphate dehydrogenase-S) is present in the spermatids of mutant mice, it fails to accumulate in the flagellum or become incorporated into the fibrous sheath, suggesting that sperm flagellum glycolysis is disrupted
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• less than 10% of mutant sperm are motile, exhibiting a sluggish flagellar motion of low amplitude with no forward progression
• notably, total number and viability of mutant epididymal sperm remain unaffected
• addition of 5 mM dibutyryl cAMP to mutant sperm at 4 hrs (but not at 10 min) after isolation increases the % of motile sperm to 34%; however, the rate and nature of flaggelar activity is similar to that of untreated mutant sperm
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• unlike wild-type sperm where incubation in M16 nedium for 2 hrs results in hyperactivated motility, mutant sperm show no change in the pattern or incidence of motility
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• hemizygous mutant males display sperm flagellum abnormalities
|
|
|
• the distal tip of mutant sperm flagella is sometimes curled or splayed apart in several fine filaments
|
|
|
• the size and integrity of mutant mitochondrial sheaths is reduced
• however, other cytoskeletal structures, the outer dense fibers and axoneme remain intact
• although a fibrous sheath anlagen is formed, the definitive fibrous sheath fails to develop fully, and proteins usually associated with the fibrous sheath are absent or substantially reduced in amount
|
|
|
• the principle piece of mutant sperm flagella is reduced in diameter relative to that of wild-type flagella
|
|
|
• mutant sperm flagella are sometimes curled at the tip
|
|
|
• although the midpiece length of mutant cauda sperm flagella is similar to that of wild-type mice, the length of the remaining flagellum is ~50% of wild-type sperm
• in addition, mutant caput sperm flagella are shorter than wild-type
|
|
|
• less than 10% of mutant sperm are motile, exhibiting a sluggish flagellar motion of low amplitude with no forward progression
• notably, total number and viability of mutant epididymal sperm remain unaffected
• addition of 5 mM dibutyryl cAMP to mutant sperm at 4 hrs (but not at 10 min) after isolation increases the % of motile sperm to 34%; however, the rate and nature of flaggelar activity is similar to that of untreated mutant sperm
|
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• unlike wild-type sperm where incubation in M16 nedium for 2 hrs results in hyperactivated motility, mutant sperm show no change in the pattern or incidence of motility
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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 04/23/2024 MGI 6.23 |
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