All Phenotypes Eda<Ta-6J> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Eda^Ta-6J/Eda⁺	C57BL/6J A^w-J-Eda^Ta-6J/J	MGI:3707524
cx2	Eda^Ta-6J/Y Tg(MMTVtTA)1Mam/0 Tg(tetO-Eda*A1)1Dsch/0	involves: C57BL/6J	MGI:3713124
ot3	Eda^Ta-6J/Y	C57BL/6J A^w-J-Eda^Ta-6J/J	MGI:3707523

Allelic Composition	Eda^Ta-6J/Eda⁺
Genetic Background	C57BL/6J A^w-J-Eda^Ta-6J/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eda^Ta-6J mutation (5 available); any Eda mutation (36 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

A^w-J/A^w-J Eda^Ta-6J/Eda⁺ female

craniofacial

abnormal palatal rugae morphology ( J:147677 )

• 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

abnormal palatal rugae morphology ( J:147677 )

• 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

abnormal palatal rugae morphology ( J:147677 )

• 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

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

growth/size/body

decreased body weight ( J:86628 )

• at 5 months of age, weight is about 80% of wild-type in the absence of doxicycline

endocrine/exocrine glands

abnormal gland morphology ( J:86628 )

• in the presence of doxicycline throughout embryonic development to suppress Eda-A1 transgene expression, males are identical to Eda^Ta-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

abnormal male preputial gland morphology ( J:86628 )

• preputial gland is not restored by transgene expression

increased sebocyte number ( J:86628 )

• in the absence of doxicycline, sebaceous glands are enlarged relative to wild-type or Eda^Ta-6J males; size of individual sebocytes is the same but the numbers are increased, with excessive production of sebum

absent Meibomian glands ( J:86628 , J:99510 )

• meibomian glands are not restored by transgene expression (J:86628)

• however, Eda transgene expression does restore the sweat glands that are absent in Eda^Ta-6J males (J:86628)

(J:99510)

sebaceous gland hyperplasia ( J:86628 )

• in the absence of doxicycline, sebaceous glands are 200-300% larger than in wild-type or Eda^Ta-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

sebaceous gland hypertrophy ( J:99510 )

• transgene expression results in hypertrophy of sebaceous glands associated with hair follicles of the eyelids

increased sebum secretion ( J:86628 )

• in the absence of doxicycline

vision/eye

absent Meibomian glands ( J:86628 , J:99510 )

• meibomian glands are not restored by transgene expression (J:86628)

• however, Eda transgene expression does restore the sweat glands that are absent in Eda^Ta-6J males (J:86628)

(J:99510)

immune system

immune system phenotype ( J:99510 )

N	• transgene expression rescues the susceptibility to corneal inflammation seen in Eda^Ta-6J males

reproductive system

abnormal male preputial gland morphology ( J:86628 )

• preputial gland is not restored by transgene expression

renal/urinary system

abnormal male preputial gland morphology ( J:86628 )

• preputial gland is not restored by transgene expression

integument

abnormal male preputial gland morphology ( J:86628 )

• preputial gland is not restored by transgene expression

increased sebocyte number ( J:86628 )

sebaceous gland hyperplasia ( J:86628 )

• in the absence of doxicycline, sebaceous glands are 200-300% larger than in wild-type or Eda^Ta-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

sebaceous gland hypertrophy ( J:99510 )

• transgene expression results in hypertrophy of sebaceous glands associated with hair follicles of the eyelids

increased sebum secretion ( J:86628 )

• in the absence of doxicycline

abnormal coat/ hair morphology ( J:86628 )

• in the absence of doxicycline, the number of medium hairs is increased to a similar extent as in Eda^Ta-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 Eda^Ta-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

abnormal hair growth ( J:86628 )

• in the absence of doxicycline, tail hairs are reduced in number

• however, the hair behind the ears that is missing in Eda^Ta-6J males is fully restored when the transgene is expressed (absence of doxicycline)

short hair ( J:86628 )

• in the absence of doxicycline, tail hairs are reduced in length

disheveled coat ( J:86628 )

• in the absence of doxicycline, mutants have somewhat scruffy disordered coat hair compared to wild-type and Eda^Ta-6J males

absent zigzag hairs ( J:86628 )

• zigzag hairs are not restored by transgene expression (absence of doxicycline)

• however, the number of guard hairs is restored to wild-type levels

abnormal skin morphology ( J:86628 )

• tail ridges on skin surfaces are absent in the absence of doxicycline

absent Meibomian glands ( J:86628 , J:99510 )

• meibomian glands are not restored by transgene expression (J:86628)

• however, Eda transgene expression does restore the sweat glands that are absent in Eda^Ta-6J males (J:86628)

(J:99510)

Allelic Composition	Eda^Ta-6J/Y
Genetic Background	C57BL/6J A^w-J-Eda^Ta-6J/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eda^Ta-6J mutation (5 available); any Eda mutation (36 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

A^w-J/A^w-J Eda^Ta-6J/Y male

endocrine/exocrine glands

absent male preputial gland ( J:86628 )

• absent preputial glands

absent Meibomian glands ( J:86628 , J:99510 )

(J:86628)

(J:99510)

absent eccrine glands ( J:86628 )

growth/size/body

decreased molar number ( J:86628 )

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

decreased body weight ( J:86628 )

• at 5 months of age, weight is 77% that of wild-type

craniofacial

decreased molar number ( J:86628 )

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

vision/eye

eye inflammation ( J:99510 )

• more than 80% show ocular surface inflammation (limbitis, conjunctivitis, blepharitis)

blepharitis ( J:99510 )

conjunctivitis ( J:99510 )

corneal limbitis ( J:99510 )

increased incidence of corneal inflammation ( 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

abnormal eye morphology ( J:99510 )

• several males have abundant mucus in the eye at 23 weeks of age

absent Meibomian glands ( J:86628 , J:99510 )

(J:86628)

(J:99510)

abnormal cornea morphology ( J:99510 )

• more than 80% develop progressive corneal lesions beginning at 4-9 weeks of age such as neovascularization, keratitis, ulceration, and keratinization

cornea vascularization ( J:99510 )

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

abnormal cornea epithelium morphology ( J:99510 )

• mutants exhibit a progressive corneal epithelia defect starting at 8-9 weeks of age and develop epithelial edema and acanthosis

cornea opacity ( J:99510 )

• 9 of 15 males have grossly visible white or white and red central, elevated corneal opacities at around 23 weeks of age

narrow eye opening ( J:99510 )

• narrowed palpebral fissures

abnormal eyelid margin morphology ( J:99510 )

• thickened eyelid margins and loss of hair along the eyelid margins

blindness ( J:86628 , J:99510 )

• blindness by 9 months of age (J:86628)

• develop severe blinding lesions in the cornea over time (J:99510)

immune system

eye inflammation ( J:99510 )

• more than 80% show ocular surface inflammation (limbitis, conjunctivitis, blepharitis)

blepharitis ( J:99510 )

conjunctivitis ( J:99510 )

corneal limbitis ( J:99510 )

increased incidence of corneal inflammation ( 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

limbs/digits/tail

absent eccrine glands ( J:86628 )

pigmentation

yellow coat color ( J:86628 )

• hair coat is yellowish

reproductive system

absent male preputial gland ( J:86628 )

• absent preputial glands

renal/urinary system

absent male preputial gland ( J:86628 )

• absent preputial glands

cardiovascular system

cornea vascularization ( J:99510 )

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

integument

absent male preputial gland ( J:86628 )

• absent preputial glands

absent eccrine glands ( J:86628 )

abnormal coat/ hair morphology ( J:86628 )

• males have more medium-length hair, however because they lack guard and zigzag hairs the overall number of hair follicles is the same

yellow coat color ( J:86628 )

• hair coat is yellowish

focal hair loss ( J:86628 )

• mutants have a bald patch behind the ear and absent hair on the tail

short hair ( J:86628 )

• hair coat is short and thin

absent guard hair ( J:86628 )

absent zigzag hairs ( J:86628 )

abnormal skin morphology ( J:86628 )

• do not exhibit skin ridges on the tail as in wild-type

absent Meibomian glands ( J:86628 , J:99510 )

(J:86628)

(J:99510)

skeleton

decreased molar number ( J:86628 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypohidrotic ectodermal dysplasia		DOID:14793		J:86628

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