Tubb4a^em1Avan
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tubb4a^em1Avan
• Name: tubulin, beta 4A class IVA; endonuclease-mediated mutation 1, Adeline Vanderver
• MGI ID: MGI:6444834
• Synonyms: Tubb4a^D249N
• Gene: Tubb4a Location: Chr17:57387061-57394600 bp, - strand Genetic Position: Chr17, 29.66 cM
• Alliance: Tubb4a^em1Avan page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to A change at position 745 (c.745G>A) resulting in an aspartate to asparagine substitution at amino acid 249 (p.D249N) in exon 4. An off-target effect includes one synonymous mutation in cis at p.Lys244Lys (c.732C>A). (J:291062)

Disease models

Expression

In Structures Affected by this Mutation:

2 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:291062 Sase S, et al., TUBB4A mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model. Elife. 2020 May 28;9:e52986
• All: 1 reference(s)