Analysis Tools
cellular
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• fibroblasts secrete higher levels of Abeta compared with wild-type cells; however, no other abnormalities are seen and homozygotes are born at normal frequency, are fertile and healthy, and exhibit normal blood and clinical chemistry and pathological analysis
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pigmentation
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• on a C57BL/6J background, mice exhibit a diluted silvery coat color relative to wild-type controls
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• skin melanocytes exhibit large round melanosomes and melanosomes with heterogeneous melanin deposits
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• skin melanocytes show altered early-stage melanosome morphology, as they harbor unusual round vacuoles filled with dense unstructured aggregates and are devoid of elongated fibril-containing premelanosomes
• skin melanocytes exhibit large round melanosomes and melanosomes with heterogeneous melanin deposits
• the % of round melanosomes is significantly increased in the retinal pigment epithelium (RPE) (47% vs. 29% in wild-type controls); however, the number of melanosomes per cell in the RPE is normal
• altered melanosome morphogenesis is likely due to impaired premelanosome protein (PMEL) processing resulting in the accumulation of PMEL amyloid aggregates in melanosomes and a dilution of the coat color
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• RPE shows significantly less elongated melanosomes with heterogeneous melanin deposits observed in in 87% of the melanosomes
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• mice exhibit coat color dilution reflecting melanogenesis defects
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integument
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• on a C57BL/6J background, mice exhibit a diluted silvery coat color relative to wild-type controls
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• skin melanocytes exhibit large round melanosomes and melanosomes with heterogeneous melanin deposits
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vision/eye
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• RPE shows significantly less elongated melanosomes with heterogeneous melanin deposits observed in in 87% of the melanosomes
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