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Spontaneous Allele Detail
Symbol: Tgcog
Name: thyroglobulin; congenital goiter
MGI ID: MGI:1856829
Synonyms: cog, Tgncog
Gene: Tg  Location: Chr15:66542606-66722570 bp, + strand  Genetic Position: Chr15, 29.3 cM, cytoband D3-E
Alliance: Tgcog page
Strain of Origin:  AKR/J
Allele Type:    Spontaneous
Mutation:    Single point mutation
Mutation detailsThe mutation is a T-to-C transition at coding nucleotide 6848 (c.6848T>C) yielding a leucine to proline change at positionn 2283 (p.L2283P). 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)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 6 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Tg Mutation:  146 strains or lines available
Original:  J:13923 Beamer WG, et al., [Adipose storage deficiency (asd)]. Mouse News Lett. 1982;67:21
All:  8 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
MGI 6.13
The Jackson Laboratory