Nars1^em2Rwb
Endonuclease-mediated Allele Detail

Summary

• Symbol: Nars1^em2Rwb
• Name: asparaginyl-tRNA synthetase 1; endonuclease-mediated mutation 2, Robert W Burgess
• MGI ID: MGI:7310307
• Gene: Nars1 Location: Chr18:64632726-64649586 bp, - strand Genetic Position: Chr18, 37.47 cM
• Alliance: Nars1^em2Rwb page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: The CRISPR/cas9-induced Ser472Phe point substitution in exon 13 that was also created in the em1Rwb allele is preceded by an 8 base pair deletion that causes a frame shift and premature truncation. qRT-PCR of heterozygotes shows an approximate 50% loss of transcript relative to wild-type. (J:348677)
• Inheritance: Recessive

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Nars1 Mutation: 33 strains or lines available

References

• Original: J:348677 Beijer D, et al., Nars1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases. Brain Commun. 2024;6(2)
• All: 1 reference(s)