Eda<Ta-6J> Spontaneous Allele Detail MGI Mouse (MGI:1856202)

Eda^Ta-6J
Spontaneous Allele Detail

Nomenclature

Symbol:	Eda^Ta-6J
Name:	ectodysplasin-A; tabby 6 Jackson
MGI ID:	MGI:1856202
Synonyms:	Ta^6J, Ta2, Tabby
Gene:	Eda Location: ChrX:97170945-97596101 bp, + strand Genetic Position: ChrX, 37.0 cM

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

Show the 3 image(s) involving this allele.

Mutation
origin

Strain of Origin:

C57BL/6J-tp^3J/J

Mutation
description

Allele Type:	Spontaneous
Mutation:	Intragenic deletion
	This allele is defined by a base pair deletion (at position 1049) resulting in a frameshift mutation. (J:42614)
Inheritance:	Semidominant

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 5 strains available Cell Lines: 0 lines available
Carrying any Eda Mutation:	28 strains or lines available

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems	Genotypes:	ht1	tg2	ot3
cardiovascular system				√
corneal vascularization				√
		ht1	tg2	ot3
craniofacial		√		√
abnormal hard palate		√
decreased molar number				√
		ht1	tg2	ot3
digestive/alimentary system		√
abnormal hard palate		√
		ht1	tg2	ot3
endocrine/exocrine glands			√	√
abnormal gland morphology			√
abnormal sebaceous gland morphology			√
absent meibomian glands			√	√
abnormal preputial gland morphology			√
absent preputial gland				√
enlarged sebaceous gland			√
absent palmar eccrine glands				√
		ht1	tg2	ot3
growth/size			√	√
decreased body weight			√	√
		ht1	tg2	ot3
immune system			N	√
immune system phenotype			N
eye inflammation				√
blepharitis				√
conjunctivitis				√
increased incidence of corneal inflammation				√
		ht1	tg2	ot3
limbs/digits/tail				√
absent palmar eccrine glands				√
		ht1	tg2	ot3
pigmentation				√
yellow coat color				√
		ht1	tg2	ot3
renal/urinary system			√	√
abnormal preputial gland morphology			√
absent preputial gland				√
		ht1	tg2	ot3
reproductive system			√	√
abnormal preputial gland morphology			√
absent preputial gland				√
		ht1	tg2	ot3
skin/coat/nails			√	√
abnormal coat/ hair morphology			√
disheveled coat			√
abnormal hair growth			√
short hair			√	√
focal hair loss				√
abnormal hair types			√	√
absent zigzag hairs			√	√
absent guard hair				√
yellow coat color				√
abnormal skin morphology			√	√
		ht1	tg2	ot3
vision/eye			√	√
eye inflammation				√
blepharitis				√
conjunctivitis				√
increased incidence of corneal inflammation				√
abnormal eye morphology				√
abnormal cornea morphology				√
corneal vascularization				√
abnormal corneal epithelium morphology				√
corneal opacity				√
abnormal eyelid morphology				√
absent meibomian glands			√	√
narrow eye opening				√
blindness				√

		ht1	tg2	ot3
Disease Models				√
Ectodermal Dysplasia, Hypohidrotic, X-Linked; XHED				√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype

Allelic Composition

Genetic Background

ht1

Eda^Ta-6J/Eda⁺

C57BL/6J A^w-J-Eda^Ta-6J/J

tg2

Eda^Ta-6J/Y
Tg(MMTVtTA)1Mam/0
Tg(tetO-Eda*A1)1Dsch/0

involves: C57BL/6J

growth/sizedecreased body weight (J:86628)

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

skin/coat/nailsabnormal coat/ hair 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 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

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

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

abnormal hair types (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

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

endocrine/exocrine glandsabnormal 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 sebaceous gland morphology (J:99510)

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

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

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)

abnormal preputial gland morphology (J:86628)

preputial gland is not restored by transgene expression

enlarged sebaceous gland (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, with excessive production of sebum

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

vision/eyeabsent meibomian glands (J:99510, J:86628)

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)

immune systemimmune system phenotype (J:99510)

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

reproductive systemabnormal preputial gland morphology (J:86628)

preputial gland is not restored by transgene expression

renal/urinary systemabnormal preputial gland morphology (J:86628)

preputial gland is not restored by transgene expression

ot3 Disease Model

Eda^Ta-6J/Y

C57BL/6J A^w-J-Eda^Ta-6J/J

Disease
models

Mouse Models of Human Disease	Note	Genotype			Ref(s)
			Allelic Composition	Genetic Background
Models with phenotypic similarity to human diseases associated with human EDA.
Ectodermal Dysplasia, Hypohidrotic, X-Linked; XHED OMIM ID: 305100		ot3	Eda^Ta-6J/Y	C57BL/6J A^w-J-Eda^Ta-6J/J	J:86628

References

Original:	J:30778 Sweet HO et al., "Remutations at The Jackson Laboratory (Update to Mouse Genome 1993; 91:862-5 - J16313)" Mouse Genome 1995;93(4):1030-4
All:	10 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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