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| Nomenclature |
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Symbol:
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Smn1tm5(Smn1/SMN2)Mrph
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Name:
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survival motor neuron 1;
targeted mutation 5, Andrew Murphy
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MGI ID: |
MGI:3794202 |
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Synonyms: |
Smn allele C |
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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:135425
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Parent Cell Line:
| F1H4 (ES Cell) |
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Strain of Origin:
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(129S6/SvEvTac x C57BL/6NTac)F1
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Insertion |
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Mutation details: The allele encodes two coding sequences: the first is a hybrid gene in which a 2.2 kb segment of mouse genome containing exons 7 and 8 of the mouse Smn1 gene was replaced with a 1.3 kb fragment of human genomic DNA containing exons 7 and 8 of the human SMN2 gene and the second is a full 42 kb copy of the human SMN2 gene. A selection cassette located downstream from the human SMN2 polyadenylation signal was removed by FLPe expression in ES cells leaving a FRT site at the downstream junction between human and mouse DNA. Because exon 7 is derived from human SMN2, it is skipped in approximately 90% of the processed mRNA derived from both genes. 2 independent clones for this allele were generated and clone A2 was used to generated mice. (J:135425)
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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:135425
Murphy A (Regeneron Pharmaceuticals, Inc.),
"Smn allele C."
Personal Communication 2008;():
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All: |
2 reference(s)
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Analysis Tools
