Nars1^em1Rwb
Endonuclease-mediated Allele Detail

Summary

• Symbol: Nars1^em1Rwb
• Name: asparaginyl-tRNA synthetase 1; endonuclease-mediated mutation 1, Robert W Burgess
• MGI ID: MGI:7310304
• Gene: Nars1 Location: Chr18:64632726-64649586 bp, - strand Genetic Position: Chr18, 37.47 cM
• Alliance: Nars1^em1Rwb page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Hypomorph)
• Mutation: Single point mutation
• Mutation details: This C to T substitution in the last codon in exon 13 results in a TCT to TTT codon change that causes an amino acid change at residue 472 from serine to phenylalanine (p.S472F), orthologous to a pathological mutation in human. (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)