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Tubb3tm1.1Ece
Targeted Allele Detail
Nomenclature
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: Chr8:124138292-124148754 bp, + strand  Genetic Position: Chr8, 72.1 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:158992
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S/SvEv
Mutation
description
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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 8 anatomical structures
Find Mice (IMSR)
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:  23 strains or lines available
References
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:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory