Elmod3^em1Jili
Endonuclease-mediated Allele Detail

Summary

• Symbol: Elmod3^em1Jili
• Name: ELMO/CED-12 domain containing 3; endonuclease-mediated mutation 1, Jie Ling
• MGI ID: MGI:6455516
• Gene: Elmod3 Location: Chr6:72542905-72575396 bp, - strand Genetic Position: Chr6, 32.27 cM
• Alliance: Elmod3^em1Jili page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: CRISPR/Cas9 technology replaced exon 6 containing the start codon with a neomycin resistance gene cassette resulting in a 277 bp deletion resulting in a frameshift mutation and premature termination codon at residue 149. Western blot confirmed the absence of the protein in the cochlea. (J:293683)

Disease models

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 Elmod3 Mutation: 21 strains or lines available

References

• Original: J:293683 Li W, et al., Elmod3 knockout leads to progressive hearing loss and abnormalities in cochlear hair cell stereocilia. Hum Mol Genet. 2019 Dec 15;28(24):4103-4112
• All: 1 reference(s)