Mouse Genome Informatics
ot
    EdaTa-6J/Y
C57BL/6J Aw-J-EdaTa-6J/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Aw-J/Aw-J EdaTa-6J/Y male.

endocrine/exocrine glands
• absent preputial glands (J:86628)
(J:86628)
(J:99510)

growth/size
• at 5 months of age, weight is 77% that of wild-type (J:86628)

craniofacial
• mutants have 2-3 molars compared to 3 in wild-type (J:86628)

vision/eye
• more than 80% show ocular surface inflammation (limbitis, conjunctivitis, blepharitis) (J:99510)
(J:99510)
• several males have abundant mucus in the eye at 23 weeks of age (J:99510)
• more than 80% develop progressive corneal lesions beginning at 4-9 weeks of age such as neovascularization, keratitis, ulceration, and keratinization (J:99510)
• corneal neovascularization begins at 8-9 weeks of age and eventually leads to vision loss (J:99510)
• 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 (J:99510)
• mutants exhibit a progressive corneal epithelia defect starting at 8-9 weeks of age and develop epithelial edema and acanthosis (J:99510)
• 9 of 15 males have grossly visible white or white and red central, elevated corneal opacities at around 23 weeks of age (J:99510)
• thickened eyelid margins and loss of hair along the eyelid margins (J:99510)
(J:86628)
(J:99510)
(J:99510)
• narrowed palpebral fissures (J:99510)
• blindness by 9 months of age (J:86628)
• develop severe blinding lesions in the cornea over time (J:99510)

immune system
• more than 80% show ocular surface inflammation (limbitis, conjunctivitis, blepharitis) (J:99510)
(J:99510)
(J:99510)
• 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 (J:99510)

limbs/digits/tail

pigmentation
• hair coat is yellowish (J:86628)

reproductive system
• absent preputial glands (J:86628)

renal/urinary system
• absent preputial glands (J:86628)

cardiovascular system
• corneal neovascularization begins at 8-9 weeks of age and eventually leads to vision loss (J:99510)

integument
• absent preputial glands (J:86628)
(J:86628)
(J:99510)
• males have more medium-length hair, however because they lack guard and zigzag hairs the overall number of hair follicles is the same (J:86628)
• hair coat is yellowish (J:86628)
• mutants have a bald patch behind the ear and absent hair on the tail (J:86628)
• hair coat is short and thin (J:86628)
• do not exhibit skin ridges on the tail as in wild-type (J:86628)

Mouse Models of Human Disease
OMIM IDRef(s)
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked; XHED 305100 J:86628