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| Nomenclature |
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Symbol:
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Als2tm1Deng
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Name:
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amyotrophic lateral sclerosis 2 (juvenile);
targeted mutatation 1 Han-Xiang Deng
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MGI ID: |
MGI:3770658 |
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Synonyms: |
Alsin- |
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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:129939
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129/Sv
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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 neomycin resistance cassette replaced part of exon 3 and all of exon 4, eliminating expression of the endogenous short and long isoforms. RT-PCR and sequence analysis of brain tissue from homozygotes revealed a mutant mRNA was produced with exons 3 and 4 skipped, leading to a frame shift and premature stop codon in exon 5. This mutant transcript was predicted to produce a polypeptide that is only 9 amino acids long with no functional activity. No native protein was produced in homozygotes by Western blot analysis. (J:129939)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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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:129939
Deng HX et al.,
"Distal axonopathy in an alsin-deficient mouse model."
Hum Mol Genet 2007 Dec 1;16(23):2911-20
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All: |
1 reference(s)
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Analysis Tools
