Tubb4a^Jit
Chemically induced Allele Detail

Summary

• Symbol: Tubb4a^Jit
• Name: tubulin, beta 4A class IVA; Jittering
• MGI ID: MGI:6887964
• Gene: Tubb4a Location: Chr17:57387061-57394600 bp, - strand Genetic Position: Chr17, 29.66 cM
• Alliance: Tubb4a^Jit page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: This ENU-induced mutation was identified in a screen to identify genes required for nervous system development. It is a T to A transversion at position 1242 resulting in an asparagine to lysine amino acid substitution at position 414 (N414K). (J:321692)
• Inheritance: Dominant

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Tubb4a Mutation: 30 strains or lines available

References

• Original: J:321692 Fertuzinhos S, et al., A dominant tubulin mutation causes cerebellar neurodegeneration in a genetic model of tubulinopathy. Sci Adv. 2022 Feb 18;8(7):eabf7262
• All: 1 reference(s)