Tubb4b^em1Golab
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tubb4b^em1Golab
• Name: tubulin, beta 4B class IVB; endonuclease-mediated mutation 1, Genetic in Ophtalmology Laboratory
• MGI ID: MGI:7334857
• Synonyms: tubb4b(R391H), Tubb4b^R391H
• Gene: Tubb4b Location: Chr2:25112172-25114714 bp, - strand Genetic Position: Chr2, 17.08 cM, cytoband A3
• Alliance: Tubb4b^em1Golab page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: CRISPR-targeting introduced the mutation responsible for the amino acid substitution of arginine with histidine at position 391 (R391H). (J:360308)
• Inheritance: Not Specified

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Tubb4b Mutation: 15 strains or lines available

References

• Original: J:360308 Dodd DO, et al., Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Science. 2024 Apr 26;384(6694):eadf5489
• All: 1 reference(s)