Optn^em1Hyua
Endonuclease-mediated Allele Detail

Summary

• Symbol: Optn^em1Hyua
• Name: optineurin; endonuclease-mediated mutation 1, Huiping Yuan
• MGI ID: MGI:7278809
• Synonyms: OPTN (E50K)
• Gene: Optn Location: Chr2:5025453-5068862 bp, - strand Genetic Position: Chr2, 3.15 cM
• Alliance: Optn^em1Hyua page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Glutamic acid codon 50 (GAG) in exon 2 was changed to lysine (AAG) (c.148G>A p.E50K) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. This mutation, in the EMO (NF kappa B essential modulator) domain of the encoded peptide, replicates the same human mutation associated with normal-tension glaucoma (NTG). (J:303304)

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Optn Mutation: 49 strains or lines available

References

• Original: J:303304 Zhang S, et al., The E50K optineurin mutation impacts autophagy-mediated degradation of TDP-43 and leads to RGC apoptosis in vivo and in vitro. Cell Death Discov. 2021 Mar 15;7(1):49
• All: 2 reference(s)