Tubb3^tm1.1Ics
Targeted Allele Detail

Summary

• Symbol: Tubb3^tm1.1Ics
• Name: tubulin, beta 3 class III; targeted mutation 1.1, Mouse Clinical Institute
• MGI ID: MGI:7616475
• Synonyms: Tubb3^M388V
• Gene: Tubb3 Location: Chr8:124138292-124148754 bp, + strand Genetic Position: Chr8, 72.1 cM
• Alliance: Tubb3^tm1.1Ics page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:342743
• Parent Cell Line: BD10 (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A Cre-inducible p.M388V mutation. An FRT site flanked neomycin resistance gene cassette was inserted into an intron and subsequently removed through Flp-mediated recombination. The mutation mimics human loss-of-function mutations associated with complex cortical dysplasia with other brain malformations (CDCBM1) and congenital fibrosis of extraocular muscles 3a (CFEOM3A). (J:342743)

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 Tubb3 Mutation: 30 strains or lines available

References

• Original: J:342743 Meziane H, et al., Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models. Biomedicines. 2022 Dec 6;10(12)
• All: 1 reference(s)