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Allele Symbol Allele Name Allele ID |
Ift20tm1.2Gjp targeted mutation 1.2, Gregory J Pazour MGI:3817269 |
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| Summary |
4 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 |
 N |
• adult males exhibit no differences in testis-to-body weight ratio relative to control males
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• only a small % of sperm are motile and show forward motility, and flagellar movement is limited to a slow, erratic waveform with a very low amplitude
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• only about 10% of epididymal sperm are motile but their motility, calculated as curvilinear velocity (VCL), is significantly reduced
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• only about 10% of epididymal sperm are motile versus 80% in control males
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• very few flagellar axonemes or mature lysosomes are present in the seminiferous tubules; instead, cell debris, including degenerating chromatin and vacuoles are observed
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• very few germ cells complete spermatogenesis
• however, testis histology revealed normal mitosis and meiosis
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• cauda epididymal sperm count is severely reduced
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• SEM analysis of epididymal sperm showed a variety of abnormal sperm morphologies, including short and kinked tails and round heads
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• some epididymal sperm with kinked tails show excess retention of cytoplasm in the kinked area
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• missing outer dense fibers (ODFs) are observed
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• abnormal axonemal structures are frequently observed in epididymal sperm, including a disrupted 9 + 2 pattern and missing outer dense fibers (ODFs) in the axoneme
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• many sperm tails are kinked
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• many sperm tails are shortened
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• some sperm display round, swollen heads
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• caudal epididymis shows a very low sperm concentration, with a high frequency of sperm anomalies, sloughed round germ cells, residual bodies, sperm with short tails, and sperm tails without heads
• in testis, stage IX shows abnormal step 16 elongated spermatids that are not released into the lumen and residual bodies being sloughed into the lumen
• stages I-III show abnormal elongated spermatids along with some normal heads and cytoplasm but spermatid tails do not appear in the lumen
• stage X shows step 16 spermatid heads remaining in the seminiferous epithelium and residual bodies remaining at the lumen rather than being phagocytized
• stage XI shows abnormal elongating spermatids and sloughed residual bodies remaining from prior stages
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• stage X shows failure of spermiation with step 16 spermatid heads remaining in the seminiferous epithelium
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• first litter size was significantly reduced in 37.5% of the 6-wk-old males that sired pups (2 to 5 pups/litter versus 7 to 11 pups/litter for age-matched control males)
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• none of the 14 adult males tested produced any litters after 3 months of breeding with adult wild-type females of known fertility
• however, sexual behavior is normal and vaginal plugs are observed in paired females
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• 6 of 16 (37.5%) of the 6-wk-old males tested were able to sire a single litter of significantly reduced size, but failed to sire pups again after the first litter
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• cauda epididymal sperm count is severely reduced
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• SEM analysis of epididymal sperm showed a variety of abnormal sperm morphologies, including short and kinked tails and round heads
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|
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• some epididymal sperm with kinked tails show excess retention of cytoplasm in the kinked area
|
|
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• missing outer dense fibers (ODFs) are observed
|
|
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• abnormal axonemal structures are frequently observed in epididymal sperm, including a disrupted 9 + 2 pattern and missing outer dense fibers (ODFs) in the axoneme
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|
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• many sperm tails are kinked
|
|
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• many sperm tails are shortened
|
|
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• some sperm display round, swollen heads
|
|
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• only a small % of sperm are motile and show forward motility, and flagellar movement is limited to a slow, erratic waveform with a very low amplitude
|
|
|
• only about 10% of epididymal sperm are motile but their motility, calculated as curvilinear velocity (VCL), is significantly reduced
|
|
|
• only about 10% of epididymal sperm are motile versus 80% in control males
|
|
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• very few flagellar axonemes or mature lysosomes are present in the seminiferous tubules; instead, cell debris, including degenerating chromatin and vacuoles are observed
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice treated with tamoxifen at 4 weeks of age show rhodopsin in the inner segment, cell body, and the synapse and accumulation of rhodopsin at the Golgi complex, indicating defective opsin trafficking
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• mice treated with tamoxifen at 4 weeks of age show rhodopsin in the inner segment, cell body, and the synapse and accumulation of rhodopsin at the Golgi complex, indicating defective opsin trafficking
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice show mislocalization of opsin in the inner segment and at the synapse such that opsin is abundant in the inner segments at P10, with dense accumulations at the basal body of the connecting cilium, suggesting a defect in cone opsin active transport through the cilium
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• cone outer segments show reduced amounts of opsin at P10
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• the number of outer segments declines rapidly after P10 such that only about 10% as many as in controls are seen at P28 and none are seen at later time points
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• rapid degeneration after P10
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• mice show mislocalization of opsin in the inner segment and at the synapse such that opsin is abundant in the inner segments at P10, with dense accumulations at the basal body of the connecting cilium, suggesting a defect in cone opsin active transport through the cilium
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• cone outer segments show reduced amounts of opsin at P10
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• the number of outer segments declines rapidly after P10 such that only about 10% as many as in controls are seen at P28 and none are seen at later time points
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• rapid degeneration after P10
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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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