Ubqln2^tm1.1Tac
Targeted Allele Detail

Summary

• Symbol: Ubqln2^tm1.1Tac
• Name: ubiquilin 2; targeted mutation 1.1, Taconic
• MGI ID: MGI:8386156
• Synonyms: UBQLN2 (mP520T)
• Gene: Ubqln2 Location: ChrX:152281228-152284558 bp, + strand Genetic Position: ChrX, 68.46 cM
• Alliance: Ubqln2^tm1.1Tac page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:236006
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details:

  Proline codon 520 (CCT) was changed to threonine (ACT) (p.P520T) and an FRT site flanked puromycin resistance gene cassette was inserted downstream of the gene. The puro cassette was removed through subsequent Flp-mediated recombination. The mutation is the equivalent of the human p.P506T mutation associated with familial ALS and in mice results in inclusion body pathology in brain tissue, leading to cognitive impairment but not mobility issues. (J:236006)

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: 5 strains or lines available

References

• Original: J:236006 Hjerpe R, et al., UBQLN2 Mediates Autophagy-Independent Protein Aggregate Clearance by the Proteasome. Cell. 2016 Aug 11;166(4):935-49
• All: 1 reference(s)