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| Nomenclature |
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Symbol:
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Tubb3tm1.1Ece
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Name:
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tubulin, beta 3 class III;
targeted mutation 1.1, Elizabeth C Engle
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MGI ID: |
MGI:4441058 |
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Synonyms: |
TUBB3R262C |
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Gene:
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Tubb3
Location:
Chr8:123411424-123422015 bp, + strand
Genetic Position: Chr8,
72.1 cM
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:158992
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129S/SvEv
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Mutation description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Exon 4 was replaced with a loxP site and an exon 4, which contains nucleotide substitutions resulting in the amino acid substitution of cysteine for arginine at position 262 (R262C). An frt and loxP flanked neo cassette downstream of the modified exon 4 was removed by flp mediated recombination leaving the modified exon 4 floxed. Reduced protein expression was confirmed by western blot analysis on extracts from homozygous and heterozygous mice. (J:158992)
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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 Tubb3 Mutation:
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11 strains or lines available |
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| References |
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Original: |
J:158992
Tischfield MA et al.,
"Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance."
Cell 2010 Jan 8;140(1):74-87
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All: |
1 reference(s)
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