Eda^em4Ywu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Eda^em4Ywu
• Name: ectodysplasin-A; endonuclease-mediated mutation 4, Yiqun Wu
• MGI ID: MGI:8209582
• Synonyms: Eda^KO
• Gene: Eda Location: ChrX:99019212-99444366 bp, + strand Genetic Position: ChrX, 43.59 cM
• Alliance: Eda^em4Ywu page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Single point mutation
• Mutation details: CRISRP/Cas9 technology generated a T to G point mutation in asparagine 157, resulting in a frameshift and knock-out allele. (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)