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| Nomenclature |
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Symbol:
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Als2tm1Garo
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Name:
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amyotrophic lateral sclerosis 2 (juvenile);
targeted mutation 1, Guy A Rouleau
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MGI ID: |
MGI:3807480 |
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Gene:
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Als2
Location:
Chr1:59162926-59237231 bp, - strand
Genetic Position: Chr1,
29.33 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:138147
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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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: A neo cassette replaced exon 2 and part of exon 3 via homologous recombination. Immunoblot blot analysis confirmed the absence of full length protein in brains from homozygous mice. However, immunoblot and RT-PCR analysis detect the presence of other Als2 isoforms in neurons. (J:138147)
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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 Als2 Mutation:
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21 strains or lines available |
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| References |
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Original: |
J:138147
Gros-Louis F et al.,
"Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish."
Hum Mol Genet 2008 Sep 1;17(17):2691-702
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All: |
1 reference(s)
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Analysis Tools
