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Mcoln2tm1e.1(KOMP)Wtsi
Targeted Allele Detail
Summary
Symbol: Mcoln2tm1e.1(KOMP)Wtsi
Name: mucolipin 2; targeted mutation 1e.1, Wellcome Trust Sanger Institute
MGI ID: MGI:5881907
Synonyms: TRPML2 KO
Gene: Mcoln2  Location: Chr3:145855588-145901268 bp, + strand  Genetic Position: Chr3, 71.03 cM
Alliance: Mcoln2tm1e.1(KOMP)Wtsi page
IMPC: Mcoln2 gene page
Mutation
origin
Mutant Cell Line:  EPD0300_5_B06
Germline Transmission:  Earliest citation of germline transmission: J:239875
Parent Cell Line:  JM8.N4 (ES Cell)
Strain of Origin:  C57BL/6N
Project Collection: KOMP-CSD
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion     Vector: L1L2_Bact_P
 
Mutation detailsThe L1L2_Bact_P cassette was inserted at position 145877259 of Chromosome 3 upstream of the critical exon (exon 4) (Build GRCm39). The cassette is composed of an FRT site followed by lacZ sequence and a loxP site. This first loxP site is followed by neomycin resistance gene under the control of the human beta-actin promoter, SV40 polyA, a second FRT site and a second loxP site. Insertion of this cassette creates a reporter knockout mouse. Cre expression removed the neomycin selection cassette. Western blot analysis using rabbit anti-MCOLN2 antibody confirmed the absence of protein in bone marrow-derived macrophages (BMDMs) isolated from homozygous mutant mice both under resting conditions and upon BMDM activation with LPS. (J:239875)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Mcoln2 Mutation:  36 strains or lines available
References
Original:  J:239875 Sun L, et al., Novel Role of TRPML2 in the Regulation of the Innate Immune Response. J Immunol. 2015 Nov 15;195(10):4922-32
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
11/05/2024
MGI 6.24
The Jackson Laboratory