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Allele : Psen1<tm1Mpm> presenilin 1; targeted mutation 1, Mark P Mattson

Primary Identifier  MGI:1930937 Allele Type  Targeted
Gene  Psen1 Transmission  Germline
Strain of Origin  (129X1/SvJ x 129S1/Sv)F1-Kitl<+> Is Recombinase  false
Is Wild Type  false
molecularNote  Point mutations were introduced into the coding region of exon 5 that altered the codons corresponding to amino acids 145 and 146 from isoleucine and methionine to valine and valine, respectively, and a BstEII restriction site. A lox-P flanked neomycin cassette was also introduced into exon 4. F2 mice exhibited the expected polymorphism of the targeted allele when genomic DNA was amplified with exon 5 specific primers and the products were digested with the appropriate restriction enzyme. Northern blot analysis of total brain RNA using a Psen1 specific antibody showed that the targeted allele was expressed at normal physiological levels in homozygous mutant mice.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • PS1M146VKI<->,
  • PS1M146V,
  • PS-1 M146V KI,
  • PS1M146V,
  • PS1KI,
  • PS1M146VKI<->,
  • PS-1 M146V KI,
  • PS1KI
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

8 Carried By

0 Driven By

769 Publication categories