Mouse Genome Informatics
ht1
    EdaTa-6J/Eda+
C57BL/6J Aw-J-EdaTa-6J/J
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype

Aw-J/Aw-JEdaTa-6J/+ female

craniofacial
• mice exhibit abnormalities in the palatal rugae pattern including absence of rugae, S-shaped rugae, and discordance of rugae
• rugae V and VI are most often affected

digestive/alimentary system
• mice exhibit abnormalities in the palatal rugae pattern including absence of rugae, S-shaped rugae, and discordance of rugae
• rugae V and VI are most often affected

growth/size/body
• mice exhibit abnormalities in the palatal rugae pattern including absence of rugae, S-shaped rugae, and discordance of rugae
• rugae V and VI are most often affected


Mouse Genome Informatics
cx2
    EdaTa-6J/Y
Tg(MMTVtTA)1Mam/0
Tg(tetO-Eda*A1)1Dsch/0

involves: C57BL/6J
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• at 5 months of age, weight is about 80% of wild-type in the absence of doxicycline

endocrine/exocrine glands
• in the presence of doxicycline throughout embryonic development to suppress Eda-A1 transgene expression, males are identical to EdaTa-6J males, showing lack of sweat glands; mice continue to show this phenotype even after withdrawal of doxicycline from the food at 6 months of age
• preputial gland is not restored by transgene expression
• in the absence of doxicycline, sebaceous glands are enlarged relative to wild-type or EdaTa-6J males; size of individual sebocytes is the same but the numbers are increased, with excessive production of sebum
• meibomian glands are not restored by transgene expression (J:86628)
• however, Eda transgene expression does restore the sweat glands that are absent in EdaTa-6J males (J:86628)
(J:99510)
• in the absence of doxicycline, sebaceous glands are 200-300% larger than in wild-type or EdaTa-6J males; size of individual sebocytes is the same but the numbers are increased
• hyperplasia is seen in both glands associated with each de novo guard follicle and also in the single sebaceous gland associated with each medium follicle
• addition of doxicycline at 3 months of age reverses the hyperplasia of sebaceous glands within 3 months
• transgene expression results in hypertrophy of sebaceous glands associated with hair follicles of the eyelids
• in the absence of doxicycline

vision/eye
• meibomian glands are not restored by transgene expression (J:86628)
• however, Eda transgene expression does restore the sweat glands that are absent in EdaTa-6J males (J:86628)
(J:99510)

immune system
N
• transgene expression rescues the susceptibility to corneal inflammation seen in EdaTa-6J males

reproductive system
• preputial gland is not restored by transgene expression

renal/urinary system
• preputial gland is not restored by transgene expression

integument
• preputial gland is not restored by transgene expression
• in the absence of doxicycline, sebaceous glands are enlarged relative to wild-type or EdaTa-6J males; size of individual sebocytes is the same but the numbers are increased, with excessive production of sebum
• in the absence of doxicycline, sebaceous glands are 200-300% larger than in wild-type or EdaTa-6J males; size of individual sebocytes is the same but the numbers are increased
• hyperplasia is seen in both glands associated with each de novo guard follicle and also in the single sebaceous gland associated with each medium follicle
• addition of doxicycline at 3 months of age reverses the hyperplasia of sebaceous glands within 3 months
• transgene expression results in hypertrophy of sebaceous glands associated with hair follicles of the eyelids
• in the absence of doxicycline
• in the absence of doxicycline, the number of medium hairs is increased to a similar extent as in EdaTa-6J males
• however, total hair numbers are unchanged
• in the presence of doxicycline throughout embryonic development to suppress Eda-A1 transgene expression, males are identical to EdaTa-6J males, showing lack of tail hair, guard hair and zigzag hair; mice continue to show this phenotype even after withdrawal of doxicycline from the food at 6 months of age
• in the absence of doxicycline, tail hairs are reduced in number
• however, the hair behind the ears that is missing in EdaTa-6J males is fully restored when the transgene is expressed (absence of doxicycline)
• in the absence of doxicycline, tail hairs are reduced in length
• in the absence of doxicycline, mutants have somewhat scruffy disordered coat hair compared to wild-type and EdaTa-6J males
• zigzag hairs are not restored by transgene expression (absence of doxicycline)
• however, the number of guard hairs is restored to wild-type levels
• tail ridges on skin surfaces are absent in the absence of doxicycline
• meibomian glands are not restored by transgene expression (J:86628)
• however, Eda transgene expression does restore the sweat glands that are absent in EdaTa-6J males (J:86628)
(J:99510)


Mouse Genome Informatics
ot3
    EdaTa-6J/Y
C57BL/6J Aw-J-EdaTa-6J/J
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype

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

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

growth/size/body
• mutants have 2-3 molars compared to 3 in wild-type
• at 5 months of age, weight is 77% that of wild-type

craniofacial
• mutants have 2-3 molars compared to 3 in wild-type

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

limbs/digits/tail

pigmentation
• hair coat is yellowish

reproductive system
• absent preputial glands

renal/urinary system
• absent preputial glands

cardiovascular system
• corneal neovascularization begins at 8-9 weeks of age and eventually leads to vision loss

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

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