Eda^em2Ywu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Eda^em2Ywu
• Name: ectodysplasin-A; endonuclease-mediated mutation 2, Yiqun Wu
• MGI ID: MGI:8209580
• Synonyms: Eda^D265G
• Gene: Eda Location: ChrX:99019212-99444366 bp, + strand Genetic Position: ChrX, 43.59 cM
• Alliance: Eda^em2Ywu page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated an A to G change resulting in an aspartate to glycine substitution at amino acid 265 (p.D265G). This is an X-linked hypohidrotic ectodermal dysplasia (ectodermal dysplasia) causing disease mutation. (J:363034)

Disease models

Expression

In Structures Affected by this Mutation:

8 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)