Tubb3^tm1.1Ece
Targeted Allele Detail

Summary

• Symbol: Tubb3^tm1.1Ece
• Name: tubulin, beta 3 class III; targeted mutation 1.1, Elizabeth C Engle
• MGI ID: MGI:4441058
• Synonyms: TUBB3^R262C
• Gene: Tubb3 Location: Chr8:124138292-124148754 bp, + strand Genetic Position: Chr8, 72.1 cM
• Alliance: Tubb3^tm1.1Ece page

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 details: Exon 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)

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

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: 29 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)