Tubg1^tm1.1Ics
Targeted Allele Detail

Summary

• Symbol: Tubg1^tm1.1Ics
• Name: tubulin, gamma 1; targeted mutation 1.1, Mouse Clinical Institute
• MGI ID: MGI:7616511
• Synonyms: Tubg1^Y92C
• Gene: Tubg1 Location: Chr11:101010764-101017245 bp, + strand Genetic Position: Chr11, 64.24 cM
• Alliance: Tubg1^tm1.1Ics page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:275532
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Tyrosine codon 92 (TAC) in exon 3 was changed to cysteine (TGC) (c.275A>G:). 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 neo cassette was removed through subsequent Flp-mediated recombination, leaving exon 2-3 floxed. The mutation is the equivalent of the same human mutation associated with complex cortical dysplasia with other brain malformations 4 (CDCBM4). (J:275532)

Disease models

Expression

In Structures Affected by this Mutation:

7 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 Tubg1 Mutation: 28 strains or lines available

References

• Original: J:275532 Ivanova EL, et al., TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis. Nat Commun. 2019 May 13;10(1):2129
• All: 2 reference(s)