Analysis Tools
endocrine/exocrine glands
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• absent preputial glands
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(J:86628)
(J:99510)
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growth/size/body
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• mutants have 2-3 molars compared to 3 in wild-type
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• at 5 months of age, weight is 77% that of wild-type
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craniofacial
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• mutants have 2-3 molars compared to 3 in wild-type
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vision/eye
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• more than 80% show ocular surface inflammation (limbitis, conjunctivitis, blepharitis)
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blepharitis
(
J:99510
)
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• increased susceptibility to corneal inflammation is seen from 8 weeks of age in males housed in convention housing but not in mice in a pathogen-free facility
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• several males have abundant mucus in the eye at 23 weeks of age
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(J:86628)
(J:99510)
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• more than 80% develop progressive corneal lesions beginning at 4-9 weeks of age such as neovascularization, keratitis, ulceration, and keratinization
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• corneal neovascularization begins at 8-9 weeks of age and eventually leads to vision loss
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• mutants exhibit a progressive corneal epithelia defect starting at 8-9 weeks of age and develop epithelial edema and acanthosis
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• 9 of 15 males have grossly visible white or white and red central, elevated corneal opacities at around 23 weeks of age
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• narrowed palpebral fissures
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• thickened eyelid margins and loss of hair along the eyelid margins
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• blindness by 9 months of age
(J:86628)
• develop severe blinding lesions in the cornea over time
(J:99510)
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immune system
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• more than 80% show ocular surface inflammation (limbitis, conjunctivitis, blepharitis)
|
blepharitis
(
J:99510
)
|
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• increased susceptibility to corneal inflammation is seen from 8 weeks of age in males housed in convention housing but not in mice in a pathogen-free facility
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limbs/digits/tail
pigmentation
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• hair coat is yellowish
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reproductive system
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• absent preputial glands
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renal/urinary system
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• absent preputial glands
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cardiovascular system
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• corneal neovascularization begins at 8-9 weeks of age and eventually leads to vision loss
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integument
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• absent preputial glands
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• males have more medium-length hair, however because they lack guard and zigzag hairs the overall number of hair follicles is the same
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• hair coat is yellowish
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• mutants have a bald patch behind the ear and absent hair on the tail
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short hair
(
J:86628
)
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• hair coat is short and thin
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• do not exhibit skin ridges on the tail as in wild-type
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(J:86628)
(J:99510)
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skeleton
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• mutants have 2-3 molars compared to 3 in wild-type
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| hypohidrotic ectodermal dysplasia | DOID:14793 | J:86628 | ||
