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| Nomenclature |
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Symbol:
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Smn1tm1Msd
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Name:
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survival motor neuron 1;
targeted mutation 1, Michael Sendtner
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MGI ID: |
MGI:2183946 |
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Synonyms: |
SMN- |
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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:42813
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Parent Cell Line:
| E14TG2aIV (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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Mutation
description |
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Allele
Type: | |
Targeted (Reporter) |
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Mutation: | |
Insertion |
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Mutation details: A lacZ-neo cassette was inserted into exon 2 by homologous recombination resulting in an in-frame fusion of lacZ to exon 2. Homozygous mutant embryos were identified up to 80 hours post coitum. The expression of the lacZ gene in tissues where Smn is normally expressed was noted. (J:42813)
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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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| References |
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Original: |
J:42813
Schrank B et al.,
"Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos."
Proc Natl Acad Sci U S A 1997 Sep 2;94(18):9920-5
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All: |
68 reference(s)
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Analysis Tools
