integument
• adults have an increase in the number of uneven, thinner hairs with irregular torsions
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brittle hair
(
J:187109
)
waved hair
(
J:187109
)
• most obvious in the first four weeks of life
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• the even groove present in wild-type hairs is often absent or highly deformed
• hair integrity appears to be compromised as overnight treatment with detergent and a reducing agent results in large areas of cuticle loss and, in places, medulla distortion
• the Huxely's layer is often torn or distorted in pelage hair and whiskers
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• keratin filaments are often shorter and less regular compared to wild-type controls
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• overlapping pattern of the scales is often distorted
• small cracks in the cuticle or scales lifting away from the cortex are sometimes seen
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• irregular twisting of many hairs
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• appear brittle
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• at 4 months of age
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• detectable by P2
• thinner than in controls
• the Huxely's layer is often torn or distorted in pelage hair and whiskers
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• twisted
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• retain toluidine blue particularly in the abdominal area at E17.5 suggesting a delay in barrier formation as no defects are seen in neonates or adults
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• corneocytes isolated from the pinna are more susceptible to sonication in reducing conditions suggesting a decrease in stability
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• impairment of the skin barrier funtion is demonstrated by FITC penetration from the skin surface, followed by two-photon microscopy showing a more invasive percutaneous penetration in homozygous mice
• increased cutaneous inflammation is shown after skin FITC treatment and increased ear swelling is shown after FITC sensitization
• no difference is seen in mouse ear swelling test (MEST) between homozygous mutant and control mice after intradermal Propionibacter acnes injection, suggesting that FITC-induced inflammation is a consequence of an impaired skin barrier than an increased activity of the mutant immune system
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homeostasis/metabolism
• impairment of the skin barrier funtion is demonstrated by FITC penetration from the skin surface, followed by two-photon microscopy showing a more invasive percutaneous penetration in homozygous mice
• increased cutaneous inflammation is shown after skin FITC treatment and increased ear swelling is shown after FITC sensitization
• no difference is seen in mouse ear swelling test (MEST) between homozygous mutant and control mice after intradermal Propionibacter acnes injection, suggesting that FITC-induced inflammation is a consequence of an impaired skin barrier than an increased activity of the mutant immune system
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