Yars1^tm1.1Rwb
Targeted Allele Detail

Summary

• Symbol: Yars1^tm1.1Rwb
• Name: tyrosyl-tRNA synthetase 1; targeted mutation 1.1, Robert W Burgess
• MGI ID: MGI:7257843
• Synonyms: Yars^E196K
• Gene: Yars1 Location: Chr4:129083595-129113033 bp, + strand Genetic Position: Chr4, 63.05 cM
• Alliance: Yars1^tm1.1Rwb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:310162
• Parent Cell Line: JM8 (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Glutamic acid codon 196 (GAG) in exon 5 was changed to lysine (AAG) (p.E196K) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 5 using BAC RP23-57A20 with recombineering. The neo cassette was removed through subsequent cre-mediated recombination. The mutation is associated with dominant intermediate Charcot-Marie-Tooth (CMT) disease type C (CMTC) in humans. (J:310162)

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 Yars1 Mutation: 66 strains or lines available

References

• Original: J:310162 Spaulding EL, et al., The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy. Science. 2021 Sep 3;373(6559):1156-1161
• All: 3 reference(s)