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| Nomenclature |
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Symbol:
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Tgcog
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Name:
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thyroglobulin;
congenital goiter
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MGI ID: |
MGI:1856829 |
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Synonyms: |
cog, Tgncog |
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Gene:
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Tg
Location:
Chr15:66670753-66850721 bp, + strand
Genetic Position: Chr15,
29.3 cM, cytoband D3-E
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Mutation
origin |
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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: The mutation is a C to T transition yielding a leucine to proline change at residue 2263. This falls within the acetylcholinesterase domain and impacts protein conformation. This conformational mutation is temperature sensitive; there is an increase in the level of TGN secreted from mutant thyrocytes at 31 degrees relative to the level secreted at 37 degrees, which is below the threshold of detection by PAGE. A small amount of functional TGN is processed in homozygous mice and serum triiodothyroinine and tetraiodothyroinine are found, albeit at vastly reduced levels. (J:49474)
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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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| References |
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Original: |
J:13923
Beamer WG et al.,
"[Adipose storage deficiency (asd)]."
Mouse News Lett 1982;67():21
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All: |
6 reference(s)
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Analysis Tools
