craniofacial
• homozygotes display hair loss with scales and erosion in the facial area
|
limbs/digits/tail
thick tail
(
J:77286
)
• mutant tails display a knot-like thickening with scales
|
nervous system
N |
• contrary to expectation, homozygotes show no apparent defects in neural tissues
|
integument
• affected tail skin displays hyperproliferative keratinocytes in the epidermal basal cell layer, as revealed by Ki67 staining
|
• at the age of 3 weeks to 4 months homozygotes, but not wild-type mice, develop skin defects on the tail, facial area and ear
• however, no skin changes are observed in the trunk and feet
|
• lesional keratinocytes are hyperproliferative and exhibit abnormal terminal differentiation
|
• affected tail skin displays hyperkeratosis
|
parakeratosis
(
J:77286
)
• affected tail skin displays parakeratosis
|
• affected tail skin displays epidermal hyperplasia
|
• mildly affected homozygotes display only a thickened epidermis with no inflammatory cell infiltration
|
scaly skin
(
J:77286
)
• the affected facial and tail skin displays scales
|
• affected tail skin displays psoriasiform epidermal hyperplasia with hyperkeratosis and parakeratosis, neutrophil influx, and subcorneal pustules that resemble "Munro's microabscesses"; however, no infiltrations of T lymphocytes or increased dermal capillarization are observed
• psoriasiform epidermal changes can be reversed by treatment with anti-psoriatic drugs (e.g. steroid and vitamin D3 analog ointments)
|
cellular
• lesional keratinocytes are hyperproliferative and exhibit abnormal terminal differentiation
|
• affected tail skin displays hyperproliferative keratinocytes in the epidermal basal cell layer, as revealed by Ki67 staining
|
growth/size/body
• homozygotes display hair loss with scales and erosion in the facial area
|