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| Nomenclature |
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Symbol:
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Edardl
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Name:
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ectodysplasin-A receptor;
downless
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MGI ID: |
MGI:1856016 |
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Synonyms: |
dl |
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Gene:
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Edar
Location:
Chr10:58600789-58675654 bp, - strand
Genetic Position: Chr10,
29.37 cM, cytoband B3
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Mutation origin |
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Mutation description |
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Allele
Type: |
Spontaneous |
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Inheritance: |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Edar Mutation:
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5 strains or lines available |
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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.
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| References |
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