Eda^em1Ywu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Eda^em1Ywu
• Name: ectodysplasin-A; endonuclease-mediated mutation 1, Yiqun Wu
• MGI ID: MGI:8209579
• Synonyms: Eda^A259E
• Gene: Eda Location: ChrX:99019212-99444366 bp, + strand Genetic Position: ChrX, 43.59 cM
• Alliance: Eda^em1Ywu page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated a TCAGCA to AGTGAG change resulting in an alanine to glutamate substitution at amino acid 259 (p.A259E). This is a non-syndromic tooth agenesis causing mutation in humans. (J:363034)

Expression

In Structures Affected by this Mutation:

2 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 Eda Mutation: 36 strains or lines available

References

• Original: J:363034 Yu K, et al., Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants. Nat Commun. 2023 Feb 11;14(1):767
• All: 1 reference(s)