Tubb5^tm1.1Dak
Targeted Allele Detail

Summary

• Symbol: Tubb5^tm1.1Dak
• Name: tubulin, beta 5 class I; targeted mutation 1.1, David A Keays
• MGI ID: MGI:6119463
• Synonyms: Tubb5^flE401K
• Gene: Tubb5 Location: Chr17:36144812-36149193 bp, - strand Genetic Position: Chr17, 18.7 cM
• Alliance: Tubb5^tm1.1Dak page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:240157
• Parent Cell Line: A9 (ES Cell)
• Strain of Origin: (C57BL/6 x 129P2/OlaHsd)F1

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A loxP site was inserted upstream of exon 4. A loxP, modified exon 4 with an E401K patient mutation and FRT-flanked neomycin resistance cassette were inserted downstream of exon 4. Flp-mediated recombination removed the selection cassette. (J:240157)

Disease models

Expression

In Structures Affected by this Mutation:

10 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Tubb5 Mutation: 16 strains or lines available

References

• Original: J:240157 Breuss M, et al., Mutations in the murine homologue of TUBB5 cause microcephaly by perturbing cell cycle progression and inducing p53-associated apoptosis. Development. 2016 Apr 01;143(7):1126-33
• All: 3 reference(s)