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Npc1l1tm1Yaio
Targeted Allele Detail
Summary
Symbol: Npc1l1tm1Yaio
Name: NPC1 like intracellular cholesterol transporter 1; targeted mutation 1, Yiannis A Ioannou
MGI ID: MGI:3579462
Synonyms: L1KO, NPC1L1-
Gene: Npc1l1  Location: Chr11:6161013-6180143 bp, - strand  Genetic Position: Chr11, 3.93 cM
Alliance: Npc1l1tm1Yaio page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:98568
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsThe insertion of a PGK-neo cassette into exon 2 at nucleotide 91263 interrupted the gene after cDNA nucleotide 601, thereby abrogating any alternatively spliced gene forms. (J:98568)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Npc1l1 Mutation:  48 strains or lines available
Notes
Homologous recombination was carried out using C57BL/6 ES cells obtained from Taconic. (J:98568)
References
Original:  J:98568 Davies JP, et al., Inactivation of NPC1L1 causes multiple lipid transport defects and protects against diet-induced hypercholesterolemia. J Biol Chem. 2005 Apr 1;280(13):12710-20
All:  13 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
12/10/2024
MGI 6.24
The Jackson Laboratory