integument
N |
• at E17.5, homozygotes show normal kinetics of epidermal barrier development, as determined by dye penetration assays
• at P5, skin barrier function is normal, as determined by trans-epidermal water loss (TEWL) and transdermal diffusion assays
|
• at P3, the lower stratum corneum appears more compact than that in wild-type controls
• cornified envelopes isolated from neonatal skin are more sensitive to mechanical stress, with only 10% remaining intact after a 3-min sonication versus 50% of wild-type envelopes
• levels of profilaggrin and filaggrin monomers are reduced at P3 whereas amino acid components of the natural moisturizing factor are significantly increased at P5 in the superficial stratum corneum
• the electrophoretic mobility of involucrin (a cornified envelope precursor) is modified, suggesting post-translational modifications
• however, no alterations in corneocyte cohesion or desquamation are observed in the stratum corneum at P5
|
• at P3, homozygotes show a deceased amount of keratohyalin granules in the stratum granulosum relative to wild-type controls; this was no longer visible after P8-10
|
• at P3, keratohyalin granules are smaller than those in wild-type controls
|
scaly skin
(
J:214662
)
• homozygotes develop a transient scaly skin phenotype during the first week of life; this is no longer visible by P7-8, after hair growth occurs
|
homeostasis/metabolism
N |
• adult homozygotes show normal kinetics of wound closure after acute skin injury, with no differences in the inflammatory cells infiltrate in the epidermis during wound healing
|