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Edardl-J
Spontaneous Allele Detail
Nomenclature
Symbol: Edardl-J
Name: ectodysplasin-A receptor; downless Jackson
MGI ID: MGI:1856018
Synonyms: EdardlJ
Gene: Edar  Location: Chr10:58600789-58675654 bp, - strand  Genetic Position: Chr10, 29.37 cM, cytoband B3
Mutation
origin
Strain of Origin:  STOCK Pmelsi
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThis allele involves a G-to-A transition mutation at coding nucleotide 1135 that causes a glutamate to lysine change at position 379 (p.E379K). (J:56496)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 1 assay results
In Structures Affected by this Mutation: 11 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Edar Mutation:  4 strains or lines available
Notes
Similar phenotypes have also been described in mice for the Tabby allelic series at the Eda locus.
References
Original:  J:5859 Green MC, et al., Evidence from chimaeras for the pattern of proliferation of epidermis in the mouse. Genet Res. 1977 Jun;29(3):279-84
All:  19 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
04/13/2021
MGI 6.16
The Jackson Laboratory