Tubg1^tm1Ics
Targeted Allele Detail

Summary

• Symbol: Tubg1^tm1Ics
• Name: tubulin, gamma 1; targeted mutation 1, Mouse Clinical Institute
• MGI ID: MGI:8164053
• Gene: Tubg1 Location: Chr11:101010764-101017245 bp, + strand Genetic Position: Chr11, 64.24 cM
• Alliance: Tubg1^tm1Ics page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:342743
• Parent Cell Line: TB1 (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Tyrosine codon 92 (TAC) in exon 3 was changed to cysteine (TGC) (c.275A>G, p.Y92C). A loxP site was inserted into intron 1 and an FRT site flanked neomycin resistance gene cassette and second loxP site were inserted into intron 3. The mutation is the equivalent of the same human mutation associated with complex cortical dysplasia with other brain malformations 4 (CDCBM4). (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 Tubg1 Mutation: 26 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)