Mbnl1^tm1Sws
Targeted Allele Detail

Summary

• Symbol: Mbnl1^tm1Sws
• Name: muscleblind like splicing regulator 1; targeted mutation 1, Maurice W Swanson
• MGI ID: MGI:3052922
• Synonyms: Mbnl1^deltaE3
• Gene: Mbnl1 Location: Chr3:60380251-60537171 bp, + strand Genetic Position: Chr3, 29.17 cM, cytoband E1
• Alliance: Mbnl1^tm1Sws page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:86903
• Parent Cell Line: CJ7 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A 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)

Disease models

Expression

In Mice Carrying this Mutation:	125 assay results 7 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Mbnl1 Mutation: 39 strains or lines available

References

• Original: J:86903 Kanadia RN, et al., A muscleblind knockout model for myotonic dystrophy. Science. 2003 Dec 12;302(5652):1978-80
• All: 27 reference(s)