Analysis Tools
mortality/aging
 |
• males die at 1-3 days after birth
|
homeostasis/metabolism
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• total free amino acid content is reduced in the stratum corneum and the distribution of amino acids in the stratum corneum is altered, with decreased levels of arginine, glycine, histidine, and serine
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dehydration
(
J:91794
)
|
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• high-frequency, skin-surface conductance is lower indicating reduced stratum corneum hydration
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• mice show an increase in transepidermal water loss across skin explants
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integument
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• mice show an increase in transepidermal water loss across skin explants
|
|
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• epidermal horny layer is tightly packed and thickened
(J:41746)
• electron microscopy of the horny layer shows narrow intercellular spaces embedded with small vesicles, not found in wild-type mice
(J:41746)
• total free amino acid content is reduced in the stratum corneum and the distribution of amino acids in the stratum corneum is altered, with decreased levels of arginine, glycine, histidine, and serine
(J:91794)
• however, structure of corneocytes, including the cornified envelope, is normal
(J:91794)
|
|
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• lamellar membrane structures in stratum corneum are shortened, distorted, and replaced by incompletely processed, lamellar body-derived materials
• most lamellar bodies in the stratum granulosum layer of the epidermis display abnormalities in size and/or internal contents, indicating an abnormality in lamellar body formation
• however, overall numbers of lamellar bodies appear normal
|
scaly skin
(
J:41746
)
|
|
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wrinkled skin
(
J:41746
)
|
|
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive congenital ichthyosis 4B | DOID:0060713 |
OMIM:242500 |
J:91794 | |
