Ubqln2^em1Hlp
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ubqln2^em1Hlp
• Name: ubiquilin 2; endonuclease-mediated mutation 1, Henry L Paulson
• MGI ID: MGI:6784046
• Gene: Ubqln2 Location: ChrX:152281228-152284558 bp, + strand Genetic Position: ChrX, 68.46 cM
• Alliance: Ubqln2^em1Hlp page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Insertion
• Mutation details: A single adenosine nucleotide was inserted/duplicated at CDS position 266 (c.266dup) to create a frameshift and premature stop codon (p.(His90Alafs*5)) using CRISPR/Cas9 technology. Western blot experiments confirmed the absence of peptide expression from this allele in brain. (J:299301)

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 Ubqln2 Mutation: 4 strains or lines available

References

• Original: J:299301 Sharkey LM, et al., Modeling UBQLN2-mediated neurodegenerative disease in mice: Shared and divergent properties of wild type and mutant UBQLN2 in phase separation, subcellular localization, altered proteostasis pathways, and selective cytotoxicity. Neurobiol Dis. 2020 Sep;143:105016
• All: 3 reference(s)