Edar^Dl-slk
Spontaneous Allele Detail

Summary

• Symbol: Edar^Dl-slk
• Name: ectodysplasin-A receptor; downless sleek
• MGI ID: MGI:1856017
• Gene: Edar Location: Chr10:58436611-58511476 bp, - strand Genetic Position: Chr10, 29.37 cM, cytoband B3
• Alliance: Edar^Dl-slk page

Mutation origin

• Strain of Origin: STOCK Tyrp1^b Dock7^m Rb(4.6)2Bnr

Mutation description

• Allele Type: Spontaneous
• Mutation: Transposon insertion
• Mutation details: Spontaneous integration of a transposon at nucleotide position 964 mutated the gene, causing premature truncation of the cytoplasmic domain of the transcript and the receptor. (J:56496, J:92196)
• Inheritance: Dominant

Expression

In Mice Carrying this Mutation:	2 assay results
In Structures Affected by this Mutation:	6 anatomical structure(s)

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: 30 strains or lines available

Notes

In conjunction with Tg(YACEdar)949Ove, Edar^Dl-slk/Edar^dl-J compound mutant mice display the wild-type phenotype.

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:173519 Washburn LL, The strain of origin of Edar^Dl-slk verified by Bruce Cattanach., The Jackson Laboratory. Personal Communication. 2011-07
• All: 9 reference(s)