Ubap1^em1Yta
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ubap1^em1Yta
• Name: ubiquitin-associated protein 1; endonuclease-mediated mutation 1, Yoshihisa Takiyama
• MGI ID: MGI:7414300
• Synonyms: Ubap1^E176Efx23
• Gene: Ubap1 Location: Chr4:41348996-41389766 bp, + strand Genetic Position: Chr4, 21.43 cM, cytoband B1
• Alliance: Ubap1^em1Yta page

Mutation origin

• Strain of Origin: (C57BL/6 x DBA/2)F1 x C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Insertion
• Mutation details: CRISPR/Cas9 technology generated an alanine duplication at position 527 (c.527dupA) resulting in a frameshift that leads to a termination codon 23 residues after the glutamate at amino acid 176 (p.E176Efx23). This results in the complete deletion of the C-terminal solenoid of overlapping ubiquitin-associated (SOUBA) domain and the loss of ubiquitin binding. Mutant transcript was detected in heterozygous brain. (J:332139)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Ubap1 Mutation: 47 strains or lines available

References

• Original: J:332139 Shimozono K, et al., Ubap1 knock-in mice reproduced the phenotype of SPG80. J Hum Genet. 2022 Dec;67(12):679-686
• All: 1 reference(s)