Edar^dl-Btlr
Chemically induced Allele Detail

Summary

• Symbol: Edar^dl-Btlr
• Name: ectodysplasin-A receptor; downless Bruce Beutler
• MGI ID: MGI:3778288
• Synonyms: achtung2, Edar^m1Btlr
• Gene: Edar Location: Chr10:58436611-58511476 bp, - strand Genetic Position: Chr10, 29.37 cM, cytoband B3
• Alliance: Edar^dl-Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The mutation is a C-to-A transversion at nucleotide position 1305, in the last of 12 exons, that results in replacement of proline by glutamine at amino acid position 349 (P349E), just 4 amino acids N-terminal to the death domain (aa ~356-431). (J:133275)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 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

References

• Original: J:133275 Crozat K, et al., Achtung2 is an allele of EDAR (ectodysplsin A receptor). MGI Direct Data Submission. 2008
• All: 1 reference(s)