Document Detail

Hypothyroid phenotype of the Tpst2 mutant mouse is dependent upon genetic background.
MedLine Citation:
PMID:  20622471     Owner:  NLM     Status:  MEDLINE    
DW/J-grt is a congenital hypothyroid mouse model that is characterized by growth retardation, significantly lowered T3 and T4 levels, and severe thyroid hypoplasia related to TSH hyporesponsiveness. Previously, we identified the point mutation of the Tpst2 gene in DW/J-grt mice that causes a decrease in the enzymatic activity, and demonstrated that the Tpst2 transgene rescues the mutant phenotypes both in vitro and in vivo. The severity of hypothyroidism is highly variable indicating the influence of modifier genes in humans. In this study, to identify the modifier/resistant gene(s) to hypothyroidism, we produced congenic strains carrying this Tpst2(grt) mutation on the C57BL/6J and 129/SvJcl (129) genetic backgrounds and analyzed growth rate and thyroid function. Interestingly, the 129 congenic mice exhibited normal growth and thyroid function. The result suggests that 129 strain has the modifier(s) of attenuation of hypothyroidism. Therefore, the identification of the modifier loci of 129 mice will provide important new information about the gene(s) related to congenital hypothyroidism.
Yayoi Hosoda; Nobuya Sasaki; Takashi Agui
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Biomedical research (Tokyo, Japan)     Volume:  31     ISSN:  1880-313X     ISO Abbreviation:  Biomed. Res.     Publication Date:  2010 Jun 
Date Detail:
Created Date:  2010-07-12     Completed Date:  2010-10-21     Revised Date:  2011-12-05    
Medline Journal Info:
Nlm Unique ID:  8100317     Medline TA:  Biomed Res     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  207-11     Citation Subset:  IM    
Laboratory of Laboratory Animal Science and Medicine, Department of Disease Control, Graduate School of Veterinary Medicine, Hokkaido University, Kita 18, Nishi 9, Nishi 9, Sapporo, Hokkaido 060-0818, Japan.
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MeSH Terms
Hypothyroidism / genetics*
Mice, Mutant Strains
Point Mutation
Sulfotransferases / genetics*
Reg. No./Substance:
EC 2.8.2.-/Sulfotransferases; EC protein, mouse

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