Tub^tub
Spontaneous Allele Detail

Summary

• Symbol: Tub^tub
• Name: TUB bipartite transcription factor; tubby
• MGI ID: MGI:1861349
• Synonyms: rd5, tub
• Gene: Tub Location: Chr7:108610087-108633666 bp, + strand Genetic Position: Chr7, 57.21 cM
• Alliance: Tub^tub page

Tub^tub/Tub^tub

Show the 5 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A G-to-T mutation of the first nucleotide of intron 11 eliminates exon 11 splice donor site G-GT by changing it to G-TT, leading to mis-splicing in the form of retention of intron 11. (J:32415)
• Inheritance: Recessive

Disease models

Expression

In Mice Carrying this Mutation:	2 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	18 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Tub Mutation: 36 strains or lines available

Notes

The phenotype associated with retinal degeneration in the tubby stock was referred to as a separate locus, rd5. rd5 was identified in the tubby stock but absent from the parental C57BL/6J stock. Based on the tight linkage of the two phenotypes and the molecular defect underlying the tub mutation, it seemed likely that tub and rd5 were the same gene. This was further supported by a knockout of the tub gene that recapitulated the retinal degeneration phenotype.

References

• Original: J:13772 Coleman DL, et al., Tubby (tub). Mouse News Lett. 1978;59:25
• All: 46 reference(s)