Npc1^tm1.1Dso
Targeted Allele Detail

Summary

• Symbol: Npc1^tm1.1Dso
• Name: NPC intracellular cholesterol transporter 1; targeted mutation 1.1, Daniel Ory
• MGI ID: MGI:5641735
• Synonyms: Npc1^I1061T, Npc1^{tm(I1061T)Dso}
• Gene: Npc1 Location: Chr18:12322749-12369457 bp, - strand Genetic Position: Chr18, 6.15 cM
• Alliance: Npc1^tm1.1Dso page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:221855
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: 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. Flp-mediated recombination removed the neo cassette leaving exons 14-20 floxed. (J:221855)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Npc1 Mutation: 74 strains or lines available

References

• Original: J:221855 Praggastis M, et al., A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele. J Neurosci. 2015 May 27;35(21):8091-106
• All: 7 reference(s)