Usp45^em1Qzha
Endonuclease-mediated Allele Detail

Summary

• Symbol: Usp45^em1Qzha
• Name: ubiquitin specific petidase 45; endonuclease-mediated mutation 1, Qingjiong Zhang
• MGI ID: MGI:7329914
• Gene: Usp45 Location: Chr4:21767161-21837872 bp, + strand Genetic Position: Chr4, 8.93 cM
• Alliance: Usp45^em1Qzha page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• CRISPR/Cas9 technology generated a 7 bp deletion in exon 14, introducing an early stop codon. (J:282594)

Disease models

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 Usp45 Mutation: 52 strains or lines available

References

• Original: J:282594 Yi Z, et al., Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis. J Med Genet. 2019 May;56(5):325-331
• All: 1 reference(s)