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Allele : Tmem106b<em3Damme> transmembrane protein 106B; endonuclease-mediated mutation 3, Markus Damme

Primary Identifier  MGI:7486152 Allele Type  Endonuclease-mediated
Attribute String  Humanized sequence Gene  Tmem106b
Strain of Origin  C57BL/6J Is Recombinase  false
Is Wild Type  false
molecularNote  CRISPR/Cas9 technology generated an CT to GC change resulting in a threonine to serine substitution at amino acid 186 (p.T186S) in exon 6. Additional silent mutations were introduced to suppress further Cas9 cleavage activity. This variant is a modifier of disease risk in frontotemporal lobar degeneration patients with progranulin mutations and is a protective allele.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • Tmem106b<T186S>,
  • Tmem106b<T186S>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

2 Publication categories

Trail: Allele