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| Nomenclature |
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Symbol:
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Smn1tm1Cdid
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Name:
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survival motor neuron 1;
targeted mutation 1, Christine DiDonato
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MGI ID: |
MGI:4836030 |
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Synonyms: |
Smn2B-Neo |
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Gene:
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Smn1
Location:
Chr13:100124852-100137690 bp, + strand
Genetic Position: Chr13,
52.99 cM, cytoband D1/D2.1
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:176267
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129Sv/J
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: A targeting vector was used to insert a 3 nucleotide mutation (gga-TTT) in exon 7 of Smn1, within an important splice enhancer element, and a floxed Neo cassette (in the opposite orientation to transcription) in intron 7. (J:176267)
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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 Smn1 Mutation:
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44 strains or lines available |
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| References |
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Original: |
J:176267
Hammond SM et al.,
"Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not late."
PLoS One 2010;5(12):e15887
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All: |
3 reference(s)
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Analysis Tools
