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Targeted Allele Detail
Symbol: Mbnl1tm1Sws
Name: muscleblind like splicing factor 1; targeted mutation 1, Maurice W Swanson
MGI ID: MGI:3052922
Synonyms: Mbnl1deltaE3
Gene: Mbnl1  Location: Chr3:60472830-60629750 bp, + strand  Genetic Position: Chr3, 29.17 cM, cytoband E1
Germline Transmission:  Earliest citation of germline transmission: J:86903
Parent Cell Line:  CJ7 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA loxP-flanked neomycin selection cassette replaced exon 3 and flanking sequence. The neomycin cassette was removed by transient Cre expression in ES cells prior to the production of chimeric mice. RT-PCR analysis demonstrated that no transcripts with sequences from exon 3 were present, but other splice isoforms expressed from this gene were detectable. Immunoblot analysis further confirmed the absence of protein isoforms containing sequences encoded by exon 3. (J:86903)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 104 assay results
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 Mbnl1 Mutation:  21 strains or lines available
Original:  J:86903 Kanadia RN, et al., A muscleblind knockout model for myotonic dystrophy. Science. 2003 Dec 12;302(5652):1978-80
All:  17 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
The Jackson Laboratory