Pus1^em1Yachu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pus1^em1Yachu
• Name: pseudouridine synthase 1; endonuclease-mediated mutation 1, Yajing Chu
• MGI ID: MGI:8343241
• Synonyms: Pus1^R110W
• Gene: Pus1 Location: Chr5:110921533-110928523 bp, - strand Genetic Position: Chr5, 53.7 cM, cytoband F
• Alliance: Pus1^em1Yachu page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: Arginine codon 110 (CGA) was changed to tryptophan (TGG) (p.R110W) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the human p.R116W mutation associated with mitochondrial myopathy, lactic acidosis, and sideroblastic anemia syndrome 1 (MLASA1) and in mice causes a similar phenotype. (J:351638)

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 Pus1 Mutation: 26 strains or lines available

References

• Original: J:351638 Shi D, et al., Pseudouridine synthase 1 regulates erythropoiesis via transfer RNAs pseudouridylation and cytoplasmic translation. iScience. 2024 Mar 15;27(3):109265
• All: 1 reference(s)