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Mlc1tm1.2Nune
Targeted Allele Detail
Summary
Symbol: Mlc1tm1.2Nune
Name: megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human); targeted mutation 1.2, Virginia Nunes
MGI ID: MGI:5618264
Gene: Mlc1  Location: Chr15:88840087-88863192 bp, - strand  Genetic Position: Chr15, 44.46 cM
Alliance: Mlc1tm1.2Nune page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:210308
Parent Cell Line:  Other (see notes) (ES Cell)
Strain of Origin:  129/Sv
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA loxP site was inserted into intron 1 and a loxP site and an FRT flanked neo cassette were inserted into intron 3 via homologous recombination. Flp mediated recombination removed the neo cassette. Cre mediated recombination removed exons 2 and 3. (J:210308)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 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 Mlc1 Mutation:  28 strains or lines available
Notes
ES cell line = H129.
References
Original:  J:210308 Hoegg-Beiler MB, et al., Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction. Nat Commun. 2014;5:3475
All:  4 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
04/09/2024
MGI 6.23
The Jackson Laboratory