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| Nomenclature |
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Symbol:
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Smn1tm1.1Jme
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Name:
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survival motor neuron 1;
targeted mutation 1.1, Judith Melki
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MGI ID: |
MGI:2384155 |
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Synonyms: |
SMNdelta7 |
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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:61396
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129
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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: Animals heterozygous for the targeted mutation Smntm1Jme were mated to a cre recombinase transgenic line to delete the floxed exon 7. Deletion of exon 7 in mRNA from the resulting animals was confirmed by RT-PCR analysis. Heterozygous exon 7 deletion animals were intercrossed to generate homozygous mutants. Homozygous mutant embryos were detected by PCR genotype analysis at E9.5. (J:61396)
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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:61396
Frugier T et al.,
"Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy."
Hum Mol Genet 2000 Mar 22;9(5):849-58
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All: |
5 reference(s)
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Analysis Tools
