growth/size/body
• neonates show precocious tooth eruption at around 6 days of age instead of at the normal 12 days of age
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• ventral and dorsal epithelia of the tongue show a proportional and prominent thickening
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scaly ears
(
J:65045
)
• at 5 weeks of age, the ears more scaly and vascularized than in controls
|
thick ears
(
J:65045
)
• the outer portion of the ear is greatly thickened at 5 weeks of age
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• neonates are on average 30% underweight
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neoplasm
• a few adults develop benign skin papillomas; they develop almost exclusively in areas prone to self-induced mechanical abrasions and in areas previously subjected to scalpel incision
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craniofacial
• neonates show precocious tooth eruption at around 6 days of age instead of at the normal 12 days of age
|
• ventral and dorsal epithelia of the tongue show a proportional and prominent thickening
|
scaly ears
(
J:65045
)
• at 5 weeks of age, the ears more scaly and vascularized than in controls
|
thick ears
(
J:65045
)
• the outer portion of the ear is greatly thickened at 5 weeks of age
|
hearing/vestibular/ear
scaly ears
(
J:65045
)
• at 5 weeks of age, the ears more scaly and vascularized than in controls
|
thick ears
(
J:65045
)
• the outer portion of the ear is greatly thickened at 5 weeks of age
|
• several regions of the adult ear epidermis shows leukocyte infiltration, both in the epidermis and in the underlying dermis; in these areas, the granular layer is absent
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limbs/digits/tail
long toenails
(
J:65045
)
• 5 week old mutants have longer nails
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• adults exhibit foot pad epidermal thickening
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• 5 week old mutants exhibit a thickened epidermis of the tail
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digestive/alimentary system
• ventral and dorsal epithelia of the tongue show a proportional and prominent thickening
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• 5 week old mutants exhibit a thickened rectal epithelium
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immune system
• several regions of the adult ear epidermis shows leukocyte infiltration, both in the epidermis and in the underlying dermis; in these areas, the granular layer is absent
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renal/urinary system
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• 5 week old males have an enlarged foreskin
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reproductive system
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• 5 week old males have an enlarged foreskin
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• mature females exhibit an enlarged and thickened vaginal epithelium
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• 5 week old males have an enlarged scrotum
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vision/eye
• neonates show precocious eyelid opening
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integument
• hair growth is stunted in neonates but is partially restored by 5-6 weeks of age
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long toenails
(
J:65045
)
• 5 week old mutants have longer nails
|
• hair follicles are often flattened and distorted at the dermal-subdermal border in neonates
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• by 5 weeks of age, the trunk shows a decrease in hair follicle density, most apparent on the ventral surface
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• neonates exhibit skin abnormalities that first appear at 2 days of age and peak between 1 and 2 weeks after birth
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• neonates exhibit a thinner dermis due to a thinner collagen matrix
• the trunk shows a thinner dermis in 5 week old mutants, mostly on the ventral surface
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• basal cells show signs of hypertrophy, and in some cases, cells are almost twice the normal size in neonates
• basal cells are more columnar in shape and seem more loosely interconnected than in controls; an abundance of extracellular material often fills these spaces
• spherical cytoplasmic inclusions are present in mutant basal cells but not in controls
• basal cells exhibit numerous short pseudopodial projections creating undulations in the basement membrane
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• increase in granular layers
• a larger number of granular cells in the epidermis retain their nuclei and keratohyalin granules are larger and less dense
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• spinous cells show signs of hypertrophy, and in some cases, cells are almost twice the normal size in neonates
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flaky skin
(
J:65045
)
• outer epidermal layers are flaky in neonates
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scaly skin
(
J:65045
)
• epidermal scaliness in neonates that disappears within 5-6 weeks after birth
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wrinkled skin
(
J:65045
)
• skin is more wrinkled in neonates
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• a few adults develop benign skin papillomas; they develop almost exclusively in areas prone to self-induced mechanical abrasions and in areas previously subjected to scalpel incision
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• keratinocytes are hyperproliferative in neonates, however by 5 weeks of age, differences are no longer detected
• keratinocytes from 9-day old mutants cultured in the absence of growth factors reach confluence more than 2 times faster than controls and exhibit long filiform projections
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skeleton
• neonates show precocious tooth eruption at around 6 days of age instead of at the normal 12 days of age
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