Matr3^em3Lutzy
Endonuclease-mediated Allele Detail

Summary

• Symbol: Matr3^em3Lutzy
• Name: matrin 3; endonuclease-mediated mutation 3, Cathleen Lutz
• MGI ID: MGI:7451262
• Synonyms: MATR3 P154S
• Gene: Matr3 Location: Chr18:35695191-35726888 bp, + strand Genetic Position: Chr18, 19.14 cM, cytoband C
• Alliance: Matr3^em3Lutzy page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: Single guide RNA (5'-TCTCTACCATAACTCAATGT-3') is used to and insert a proline to serine substation at amino acid 154 (P154S, CCT to TCT) in exon 2. In addition, the silent nucleotide change G153G (GGC to GGA) is inserted to eliminate the PAM cutting site. The P154S mutation was found in a human ALS and FTD (frontotemporal lobar degeneration) patient. (J:334515)

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 Matr3 Mutation: 110 strains or lines available

References

• Original: J:334515 Dominick M, et al., MATR3 P154S knock-in mice do not exhibit motor, muscle or neuropathologic features of ALS. Biochem Biophys Res Commun. 2023 Feb 19;645:164-172
• All: 1 reference(s)