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| Nomenclature |
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Symbol:
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Smn1tm1Hung
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Name:
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survival motor neuron 1;
targeted mutation 1, Hung Li
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MGI ID: |
MGI:2383990 |
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Synonyms: |
Smn-, Smndelta 7 |
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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:59313
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Parent Cell Line:
| E14TG2a (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 (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Exon 7 was replaced with an HPRT cassette via homologous recombination. Homozygous embryos were detected at E3.5 but not after E6.5. (J:59313)
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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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Notes |
Homozygous mutant mice died during the peri-implantation stage.
In contrast, homozygous mutant mice carrying Tg(SMN2)1Hung display pathological changes in the spinal cord and skeletal muscles similar to those of patients with proximal spinal muscular atrophy (SMA). Some of these mice do not develop hairy fur, and die before postnatal day 10. Others exhibit poor activity and variable symptoms, and die at approximately 2-4 weeks. A third group of these mice survive to adulthood and are fertile, but have short enlarged tails. The variable severity of the pathological changes in these mice correlates with transgene copy number and the amount of protein that contains the region encoded by exon 7.
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| References |
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Original: |
J:59313
Hsieh-Li HM et al.,
"A mouse model for spinal muscular atrophy."
Nat Genet 2000 Jan;24(1):66-70
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All: |
21 reference(s)
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Analysis Tools
