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Allele : Npc1<tm1Dso> NPC intracellular cholesterol transporter 1; targeted mutation 1, Daniel Ory

Primary Identifier  MGI:5910901 Allele Type  Targeted
Attribute String  Conditional ready Gene  Npc1
Transmission  Germline Strain of Origin  129
Is Recombinase  false Is Wild Type  false
molecularNote  A loxP site was inserted into intron 13, and an FRT-flanked neomycin resistance cassette followed by a second loxP site into intron 20. A c.3179T>C point mutation was introduced in exon 21 at codon 1060, resulting in an isoleucine to threonine substitution (p.I1060T) in the encoded protein that mimics the I1061T mutation commonly found in humans with Niemann-Pick type C1 (NPC1) disease.
  • mutations:
  • Insertion
  • synonyms:
  • Npc1<tm(I1061T)Dso>,
  • Npc1<tm(I1061T)Dso>,
  • Npc1<I1061T>,
  • Npc1<I1061T>
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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

4 Publication categories

Trail: Allele