Gars1^em4Gebai
Endonuclease-mediated Allele Detail

Summary

• Symbol: Gars1^em4Gebai
• Name: glycyl-tRNA synthetase 1; endonuclease-mediated mutation 4, Ge Bai
• MGI ID: MGI:7645903
• Synonyms: L42A-CMT2D, L42A-Gars^P234KY
• Gene: Gars1 Location: Chr6:55014992-55056485 bp, + strand Genetic Position: Chr6, 27.29 cM
• Alliance: Gars1^em4Gebai page

Mutation origin

• Strain of Origin: B6;CAST-Gars1^Nmf249/RwbJ

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutations: Insertion, Intragenic deletion, Nucleotide substitutions
• Mutation details: Using oocytes that contain the Gars1^Nmf249 allele (where proline codon 278 (CCT) is replaced with tyrosine and lysine codons (AAATAT) (p.P278delinsKY)), leucine codon 88 (CTC) in exon 2 was changed to alanine (GCC) (p.L88A) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutated residue is located in the WHEP domain of the encoded peptide. (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 Gars1 Mutation: 43 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)