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| Nomenclature |
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Symbol:
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Mbnl1tm1Sws
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Name:
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muscleblind-like 1 (Drosophila);
targeted mutation 1, Maurice W Swanson
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MGI ID: |
MGI:3052922 |
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Synonyms: |
Mbnl1deltaE3 |
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Gene:
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Mbnl1
Location:
Chr3:60501252-60629748 bp, + strand
Genetic Position: Chr3,
29.17 cM, cytoband E1
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:86903
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Parent Cell Line:
| CJ7 (ES Cell) |
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Strain of Origin:
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129S1/Sv-Oca2+ Tyr+ Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Mbnl1 Mutation:
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15 strains or lines available |
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| References |
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Original: |
J:86903
Kanadia RN et al.,
"A muscleblind knockout model for myotonic dystrophy."
Science 2003 Dec 12;302(5652):1978-80
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All: |
8 reference(s)
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Analysis Tools
