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Tubtub
Spontaneous Allele Detail
Nomenclature
Symbol: Tubtub
Name: tubby candidate gene; tubby
MGI ID: MGI:1861349
Synonyms: rd5, tub
Gene: Tub  Location: Chr7:109010825-109034460 bp, + strand  Genetic Position: Chr7, 57.21 cM
Tubtub/Tubtub

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
Inheritance:    Recessive
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 1 assay results
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:  6 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:  38 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/16/2014
MGI 5.20
The Jackson Laboratory