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Targeted Allele Detail
Symbol: Tubb3tm1.1Ece
Name: tubulin, beta 3 class III; targeted mutation 1.1, Elizabeth C Engle
MGI ID: MGI:4441058
Synonyms: TUBB3R262C
Gene: Tubb3  Location: Chr8:123411424-123422015 bp, + strand  Genetic Position: Chr8, 72.1 cM
Germline Transmission:  Earliest citation of germline transmission: J:158992
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S/SvEv
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Intragenic deletion
Mutation detailsExon 4 was replaced with a loxP site and a modified exon 4 that contains nucleotide substitutions resulting in the amino acid substitution of cysteine for arginine at position 262 (R262C), mimicking a mutation found in some congenital fibrosis of the extraocular muscles type 3 (CFEOM3) patients. 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)
View phenotypes and curated references for all genotypes (concatenated display).
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Tubb3 Mutation:  20 strains or lines available
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
All:  1 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
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