Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Mbnl1tm1Sws
Name:	muscleblind like splicing regulator 1; targeted mutation 1, Maurice W Swanson
MGI ID:	MGI:3052922
Synonyms:	Mbnl1deltaE3
Gene:	Mbnl1  Location: Chr3:60380251-60537171 bp, + strand  Genetic Position: Chr3, 29.17 cM, cytoband E1
Alliance:	Mbnl1tm1Sws page

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 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	125 assay results 6 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	2 anatomical structure(s)

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:	38 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:	26 reference(s)