reproductive system
azoospermia
(
J:160207
)
• even as early as 6 weeks of age homozygotes are azoospermic with severe degradation of spermatogenesis and are devoid of spermatocytes, spermatids, and spermatozoa with elongated tails
• by 20 weeks of age homozygotes have only a few spermatogonial stem cells, although Sertoli cells remain
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• standard pathological examination of the testes of two mutant mice aged 224 days revealed aspermiogenesis
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vision/eye
• at 10 days of age the apical processes of the retinal pigment epithelium are elongated and some ezrin staining of the basal retinal pigment epithelium is found indicative of a disruption in cell polarity
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• evident by 2 weeks of age and progressing such that by 3 weeks of age the outer nuclear layer is only one to two nuclei in thickness
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• disorganized and shortened by 2 weeks of age and not visible by 3 weeks of age
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• routine ophthalmoscopic examination of 8 week-old homozygous mice revealed mottling of the retina and atrophy of the retinal vasculature
(J:82238)
• standard pathological examination of two mutant mice aged 224 days revealed severe bilateral retinal degeneration
(J:82238)
• at 3 weeks of age the retina has a grainy appearance and by 12 weeks of age this progresses into large white patches distributed across the entire retina
(J:160207)
• although the retina is normal at 10 days of age, by 14 days of age the outer nuclear layer is reduced in thickness with several pyknotic nuclei and the photoreceptor outer segments are disorganized and shortened, and by 3 weeks of age the photoreceptor layer is reduced to one to two layers of cells with outer segments not visible
(J:160207)
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• both dark and light adapted flash electroretinograms show reduced amplitude responses as early as 14 days of age progressing to near zero by 26 days of age
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nervous system
• progressive leukoencephalopathy results in vacuoles in the white matter tracts and cerebellum evident by 7 months of age and more severe at 18 months of age although no resulting overt behavioral expression is found
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• disorganized and shortened by 2 weeks of age and not visible by 3 weeks of age
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• standard pathological examination of two mutant mice aged 224 days revealed status spongiosus of the brain and eosinophilic inclusions in the brainstem and spinal cord
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• standard pathological examination of two mutant mice aged 224 days revealed dystrophic axons in the brainstem and spinal cord
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pigmentation
• at 10 days of age the apical processes of the retinal pigment epithelium are elongated and some ezrin staining of the basal retinal pigment epithelium is found indicative of a disruption in cell polarity
|
cellular
azoospermia
(
J:160207
)
• even as early as 6 weeks of age homozygotes are azoospermic with severe degradation of spermatogenesis and are devoid of spermatocytes, spermatids, and spermatozoa with elongated tails
• by 20 weeks of age homozygotes have only a few spermatogonial stem cells, although Sertoli cells remain
|