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Mbnl3tm1.1Sws
Targeted Allele Detail
Summary
Symbol: Mbnl3tm1.1Sws
Name: muscleblind like splicing factor 3; targeted mutation 1.1, Maurice S Swanson
MGI ID: MGI:5518844
Synonyms: Mbnl3deltaE2
Gene: Mbnl3  Location: ChrX:50206146-50295409 bp, - strand  Genetic Position: ChrX, 28.03 cM
Alliance: Mbnl3tm1.1Sws page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:199127
Parent Cell Line:  CMTI-2 (ES Cell)
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Targeted (Hypomorph, Modified isoform(s))
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA loxP site was inserted upstream of exon 2. A neomycin resistance cassette with a 3' loxP site was inserted downstream of exon 2. Cre-mediated recombination remove exon 2 and the neomycin resistance cassette. Western blot analysis confirmed the absence of exon 2-containing isoform(s) but over-expression of isoform ZnF3/4 in the E15 forelimb. (J:199127)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 2 assay results
3 RNA-Seq or microarray experiment(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 Mbnl3 Mutation:  3 strains or lines available
References
Original:  J:199127 Poulos MG, et al., Progressive impairment of muscle regeneration in muscleblind-like 3 isoform knockout mice. Hum Mol Genet. 2013 Sep 1;22(17):3547-58
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
12/10/2024
MGI 6.24
The Jackson Laboratory