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| Nomenclature |
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Symbol:
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Als2tm1Jei
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Name:
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amyotrophic lateral sclerosis 2 (juvenile);
targeted mutation 1, Joh-E Ikeda
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MGI ID: |
MGI:3612978 |
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Synonyms: |
Als2-, Als2tm1Jeo |
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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:104446
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Parent Cell Line:
| E14.1 (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 3 was replaced with a neomycin resistance gene, allowing ablation of both short and long isoforms. Transcription is still possible from the endogenous promoter, however, protein translation is terminated after the first 14 amino acids, thereby removing all of the functional domains. Western blot failed to detect protein in various tissues of mutants. (J:104446)
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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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Notes |
In J:104446, the authors state that despite the lack of phenotypic similarity to human ALS2 disease, these mice may be useful models for investigating the molecular pathogenesis of motorneuron diseases arising from ALS2 mutations.
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| References |
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Original: |
J:104446
Hadano S et al.,
"Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking."
Hum Mol Genet 2006 Jan 15;15(2):233-50
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All: |
5 reference(s)
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Analysis Tools
