Ehd1^em1Wthg
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ehd1^em1Wthg
• Name: EH-domain containing 1; endonuclease-mediated mutation 1, Benjamin Davies
• MGI ID: MGI:7516131
• Synonyms: Ehd1^R398W
• Gene: Ehd1 Location: Chr19:6326926-6350126 bp, + strand Genetic Position: Chr19, 4.4 cM
• Alliance: Ehd1^em1Wthg 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 arginine to tryptophan substitution at amino acid 398 (p.R398W) in exon 5. This is a variant identified in individuals with tubular proteinuria and deafness. (J:338824)

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 Ehd1 Mutation: 39 strains or lines available

References

• Original: J:338824 Issler N, et al., A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness. J Am Soc Nephrol. 2022 Apr;33(4):732-745
• All: 2 reference(s)