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Allele : Psen1<tm3.1Shn> presenilin 1; targeted mutation 3.1, Jie Shen
Primary Identifier  MGI:5427478 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Psen1
Transmission  Germline Strain of Origin  (C57BL/6 x 129)F1
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 6 was replaced with a floxed neo cassette and a modified exon 6 with a transversion (c.548G>T) that results in the amino acid substitution of valine for glycine at position 183 (G183V), mimicking a mutation found in family suffering from a frontotemporal dementia (FTD). Cre-mediated recombination removed the neo cassette.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • c.548GT<KI>,
  • c.548GT<KI>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

4 Publication categories

Trail: Allele




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