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Edardl
Spontaneous Allele Detail
Nomenclature
Symbol: Edardl
Name: ectodysplasin-A receptor; downless
MGI ID: MGI:1856016
Synonyms: dl
Gene: Edar  Location: Chr10:58600789-58675654 bp, - strand  Genetic Position: Chr10, 29.37 cM, cytoband B3
Mutation
origin
Strain of Origin:  A/H
Mutation
description
Allele Type:    Spontaneous
Inheritance:    Recessive
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Edar Mutation:  5 strains or lines available
Notes
Homozygotes closely resemble crinkled (cr/cr) mice and tabby homozygotes (Ta/Ta) and hemizygotes (Ta/Y). The coat is thin and shiny. (J:5139). By means of dermal--epidermal recombination grafts of tail skin, the site of action of Edar has been shown to be in the epidermis (J:5445, J:5489).

Phenotypic Similarity to Human Syndrome: hypohidrotic/anhidrotic ectodermal dysplasia (OMIM 305100, 224900, and 129490). Similar phenotypes have also been described in mice for the Tabby allelic series at the Eda locus.

References
Original:  J:18293 Phillips RJS, New mutant. Mouse News Lett. 1960;23:29-30
All:  14 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/09/2014
MGI 5.20
The Jackson Laboratory