Hars1^em1Gebai
Endonuclease-mediated Allele Detail

Summary

• Symbol: Hars1^em1Gebai
• Name: histidyl-tRNA synthetase 1; endonuclease-mediated mutation 1, Ge Bai
• MGI ID: MGI:7645905
• Synonyms: Hars^CMT2W, Hars^D364Y
• Gene: Hars1 Location: Chr18:36899581-36916258 bp, - strand Genetic Position: Chr18, 19.46 cM, cytoband B3
• Alliance: Hars1^em1Gebai page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Single point mutation
• Mutation details: Aspartic acid codon 364 (GAT) in exon 10 was changed to tyrosine (TAT) (p.D364Y) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. Mutations is the human ortholog are associated with Charcot-Marie-Tooth disease type 2W (CMT2W). (J:347500)

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 Hars1 Mutation: 27 strains or lines available

References

• Original: J:347500 Cui Q, et al., Diverse CMT2 neuropathies are linked to aberrant G3BP interactions in stress granules. Cell. 2023 Feb 16;186(4):803-820.e25
• All: 1 reference(s)