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| Nomenclature |
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Symbol:
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Tubtub
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Name:
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tubby candidate gene;
tubby
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MGI ID: |
MGI:1861349 |
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Synonyms: |
rd5, tub |
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Gene:
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Tub
Location:
Chr7:109010825-109034460 bp, + strand
Genetic Position: Chr7,
57.21 cM
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Tubtub/Tubtub
Show the 5 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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C57BL/6J
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: A donor splice site in the 3' region of the gene is abolished by a G to T transversion resulting in a larger transcript containing the unspliced intron. (J:32415)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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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.
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| References |
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Analysis Tools
