Analysis Tools
skeleton
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• 73% of mutants exhibit malformed skeletons
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• 4 of 15 mutants exhibit a malformed squamosal bone
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• 1 of 15 mutants show a thyroid cartilage fused to hyoid bone
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• 1 of 15 mutants show tracheal cartilage abnormalities
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• 6 of 15 (40%) mutants show fusion of C1-AA with C2 dens
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• 1 of 15 mutants show fusions of neural arches of C2 and C3
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• 3 of 15 (20%) mutants show anterior transformation of T8 to T7
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• 1 of 15 mutants show anterior transformation of C2 to C1
• 3 of 15 mutants show posterior transformation of C7 to T1
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• 2 of 15 mutants show anterior transformation of L1 to T14
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vision/eye
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• display a mild reduction of the palpebral aperture at E14.5
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craniofacial
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• 4 of 15 mutants exhibit a malformed squamosal bone
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respiratory system
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• 1 of 15 mutants show a thyroid cartilage fused to hyoid bone
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• 1 of 15 mutants show tracheal cartilage abnormalities
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reproductive system
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• young adult male homozygotes show a striking decrease in the number of epididymal spermatozoa relative to wild-type controls
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• most of the remaining mutant epididymal spermatozoa appear defective relative to those of wild-type controls
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• ~77% of mutant step 8-9 spermatids are randomly oriented with regard to the basal aspect of Sertoli cells in putative stage VIII-IX tubules relative to ~4% of controls
• four (instead of expected three) layers of germ cells are detected in putative stage IX, where late spermatids are retained in the epithelia
• at putative stage VIII, no alignment of mature spermatids at the surface of tubular lumen is observed
• no entrenchment of spermatids within more basal aspects of Sertoli cells is observed in putative stage IV
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• at 6 weeks of age, TUNEL-positive, peripherally-located elongated spermatids at steps 10-11 of spermiogenesis are noted in mutant testes but never in wild-type testes; the frequency of TUNEL-positive elongated spermatids decreases by 8 and 9 weeks of age
• at 6 weeks of age, TUNEL-positive apoptotic elongated spermatids are detected when deeply embedded in the seminiferous epithelium
• apoptosis of elongating spermatids does not appear to involve pathways mediated by activated caspase-3
• similar to wild-type testes, mutant testes show the highest number of TUNEL-positive germ cells (not including elongated spermatids) at 3-weeks of age; however, mutant testes show a second peak of apoptosis at ~6 weeks, which then drops at 7, 8 and 9 weeks
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• young adult male homozygotes show specific defects in spermiogenesis, which may correlate with a failure in both spermatid release and spermatid orientation to the basal aspect of Sertoli cells at putative stage VIII
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cellular
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• young adult male homozygotes show a striking decrease in the number of epididymal spermatozoa relative to wild-type controls
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• most of the remaining mutant epididymal spermatozoa appear defective relative to those of wild-type controls
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• ~77% of mutant step 8-9 spermatids are randomly oriented with regard to the basal aspect of Sertoli cells in putative stage VIII-IX tubules relative to ~4% of controls
• four (instead of expected three) layers of germ cells are detected in putative stage IX, where late spermatids are retained in the epithelia
• at putative stage VIII, no alignment of mature spermatids at the surface of tubular lumen is observed
• no entrenchment of spermatids within more basal aspects of Sertoli cells is observed in putative stage IV
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• at 6 weeks of age, TUNEL-positive, peripherally-located elongated spermatids at steps 10-11 of spermiogenesis are noted in mutant testes but never in wild-type testes; the frequency of TUNEL-positive elongated spermatids decreases by 8 and 9 weeks of age
• at 6 weeks of age, TUNEL-positive apoptotic elongated spermatids are detected when deeply embedded in the seminiferous epithelium
• apoptosis of elongating spermatids does not appear to involve pathways mediated by activated caspase-3
• similar to wild-type testes, mutant testes show the highest number of TUNEL-positive germ cells (not including elongated spermatids) at 3-weeks of age; however, mutant testes show a second peak of apoptosis at ~6 weeks, which then drops at 7, 8 and 9 weeks
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