Tg^cog
Spontaneous Allele Detail

Summary

• Symbol: Tg^cog
• Name: thyroglobulin; congenital goiter
• MGI ID: MGI:1856829
• Synonyms: cog, Tgn^cog
• Gene: Tg Location: Chr15:66542606-66722570 bp, + strand Genetic Position: Chr15, 29.3 cM, cytoband D3-E
• Alliance: Tg^cog page

Mutation origin

• Strain of Origin: AKR/J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: The 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

Disease models

Expression

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

References

• Original: J:13923 Beamer WG, et al., [Adipose storage deficiency (asd)]. Mouse News Lett. 1982;67:21
• All: 8 reference(s)