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Allele : Matr3<em3Lutzy> matrin 3; endonuclease-mediated mutation 3, Cathy Lutz

Primary Identifier  MGI:7451262 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Matr3
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • MATR3 P154S,
  • MATR3 P154S
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

2 Publication categories