Analysis Tools
integument
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• keratinocytes exhibit abnormal cell-cell contacts and impaired intermediate filament (IF) insertion to the desmosome
• intact but free-floating desmosomes without keratin attachment are seen close to the blister fluid, indicating their detachment from the IFs
• KRT5 staining showed a slight nuclear retraction, leaving wider gaps in between cells
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waved hair
(
J:340887
)
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• all mice exhibit a woolly/wavy hair phenotype
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• hair displays a groove-like shape, unlike the flattened cylinder shape of wild-type hair
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acantholysis
(
J:340887
)
acanthosis
(
J:340887
)
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• wounded skin shows a suprabasal split in the epidermis, with acantholysis and acanthosis
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• keratinocytes exhibit keratin bundle retraction in the proximity of the nucleus
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• cultured keratinocytes show a significant downregulation of loriscrin and involucrin (late-stage differentiation markers) and an upregulation of desmoplakin, with predominant accumulation of desmoplakin in the cytoplasm
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blistering
(
J:340887
)
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• spontaneous wounds exhibit blister fluid under a thick scab roof
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skin lesions
(
J:340887
)
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• 40% of mice develop spontaneous skin erosions over time due to grooming, scratching and/or fighting, not observed in wild-type controls
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• first skin erosion outbursts appear to start a cascade of itching reactions that worsen the phenotype over time
• isolating affected mice or nail cutting does not improve animal welfare
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• 40% of mice develop a mild skin fragility phenotype
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cellular
|
• keratinocytes exhibit abnormal cell-cell contacts and impaired intermediate filament (IF) insertion to the desmosome
• intact but free-floating desmosomes without keratin attachment are seen close to the blister fluid, indicating their detachment from the IFs
• KRT5 staining showed a slight nuclear retraction, leaving wider gaps in between cells
|
|
• cultured keratinocytes show a significant downregulation of loriscrin and involucrin (late-stage differentiation markers) and an upregulation of desmoplakin, with predominant accumulation of desmoplakin in the cytoplasm
|
homeostasis/metabolism
cardiovascular system
| N |
• although TUFT1 is specifically localized at the intercalated discs of the myocardium in wild-type controls, no cardiac abnormalities are observed up to 12 months of age
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| palmoplantar keratosis | DOID:3390 | J:340887 | ||
