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Npc1tm2Tacf
Targeted Allele Detail
Summary
Symbol: Npc1tm2Tacf
Name: NPC intracellular cholesterol transporter 1; targeted mutation 2, The Addi and Cassi Fund
MGI ID: MGI:6315236
Synonyms: pioneer
Gene: Npc1  Location: Chr18:12322749-12369457 bp, - strand  Genetic Position: Chr18, 6.15 cM
Alliance: Npc1tm2Tacf page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:266795
Parent Cell Line:  Bruce 4 (ES Cell)
Strain of Origin:  B6.Cg-Thy1a
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutation:    Deletion
 
Mutation detailsThe deletion of G at c.1920 (originally identified in a human Niemann-Pick disease type C (NPC) patient) and a stop codon in the position where translation terminates in the human NPC1 gene variant are introduced to mouse exon 12. This mutation is situated at the beginning of the SSD domain (important for cholesterol binding), and creates a premature stop codon that yields a truncated protein due to a frameshift. (J:266795)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Npc1 Mutation:  72 strains or lines available
References
Original:  J:266795 Gomez-Grau M, et al., New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease. Sci Rep. 2017 Feb 7;7:41931
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory