Analysis Tools
mortality/aging
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• intermating of heterozygotes results in only 70% of the expected number of homozygotes at 3 weeks
• intermating of homozygous mutant males with female heterozygotes results in 60% of the expected number of homozygotes at 3 weeks
• however, no embryonic loss of homozygotes is noted prior to birth (E10.5 to E18.5)
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behavior/neurological
hyperactivity
(
J:46379
)
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• by 2 weeks, 15% of homozygotes on a mixed genetic background display hyperactivity
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• by 2 weeks, 15% of homozygotes on a mixed genetic background display hyperactive circling, with variable severity among individuals
• severely affected homozygotes circle at rates up to 176 rpm for several minutes, interspersed with non-circling periods of feeding, grooming and sleep
• Background Sensitivity: on a coisogenic 129/Sv background, 91% of homozygotes display circling vs 15% of homozygotes on a mixed 129/Sv x C57BL/6J background
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hearing/vestibular/ear
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• the horizontal (lateral) semicircular canal lacks both a horizontal crista and the associated horizontal ampullary chamber
• in contrast, the anterior and posterior cristae are completely normal
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• adult homozygotes exhibit a complete loss of the horizontal semicircular canal crista
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• adult homozygotes display abnormalities in vestibular sensory organ development
• however, both the sensory and secretory epithelium of the cochlear duct appear normal and hearing ability is apparently unaffected
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• adult homozygotes display a fusion of the utricle and saccule endolymphatic spaces and depletion of sensory cells in these otolith organs
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• adult homozygotes display a fusion of the utricle and saccule endolymphatic spaces into a common utriculosaccular chamber with a contiguous endolymphatic space
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• adult homozygotes display a 35% loss in the sensory epithelial area of utricular macula
• however, no differences in otoconia or sensory hair bundles of the macula are observed
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• adult homozygotes display a fusion of the utricle and saccule endolymphatic spaces into a common utriculosaccular chamber with a contiguous endolymphatic space
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• adult homozygotes display a 15% loss in the sensory epithelial area of saccular macula
• however, no differences in otoconia or sensory hair bundles of the macula are observed
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reproductive system
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• at E4.5-E5.5, embryos remain unattached and fail to initiate any decidualization reaction
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• female homozygotes produce normal oocytes, can be fertilized and their embryos undergo normal preimplantation development, but embryos fail to implant successfully in mutant uteri and subsequently die
• uterine histology is apparently normal, with no gross changes in the luminal epithelium, stroma or epithelial glands
• at postimplantation stage E5.5, unimplanted nercotic embryos are recovered from uteri of female homozygotes while, at later stages, 89% of females show no signs of embryo implantation
• transfer of preimplantation embryos from mutant uterine horns to wild-type pseudopregnant females results in successful pregnancy and birth
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• 88% of female homozygotes exhibit reduced post-implantation fertility, with failure of a successful pregnancy despite repeated independent vaginal pluggings from wild-type males
• in contrast, male homozygotes are fully fertile
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embryo
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• at E4.5-E5.5, embryos remain unattached and fail to initiate any decidualization reaction
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