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Mcoln1tm1Sasl
Targeted Allele Detail
Nomenclature
Symbol: Mcoln1tm1Sasl
Name: mucolipin 1; targeted mutation 1, Susan A Slaugenhaupt
MGI ID: MGI:3794204
Gene: Mcoln1  Location: Chr8:3500519-3515232 bp, + strand  Genetic Position: Chr8, 1.92 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:135368
Parent Cell Line:  LC3 (ES Cell)
Strain of Origin:  (C57BL/6N x 129S6/SvEvTac)F1
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExons 3, 4 and part of exon 5 were replaced with a neo cassette. The absence of transcript was confirmed by RT-PCR on brain extracts. (J:135368)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 14 anatomical structures
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 Mcoln1 Mutation:  24 strains or lines available
Notes
ES cell line = LC3, which carries GFP.
References
Original:  J:135368 Venugopal B, et al., Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV. Am J Hum Genet. 2007 Nov;81(5):1070-83
All:  20 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
05/26/2020
MGI 6.15
The Jackson Laboratory