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| Nomenclature |
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Symbol:
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Thrbtm3Few
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Name:
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thyroid hormone receptor beta;
targeted mutation 3, Frederic E Wondisford
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MGI ID: |
MGI:2676923 |
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Synonyms: |
GS125 KI, TR-BetaGS |
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Gene:
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Thrb
Location:
Chr14:17660960-18038086 bp, + strand
Genetic Position: Chr14,
7.08 cM, cytoband A3
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:85158
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129
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Mutation description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Other |
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Mutation details: Missense mutations were introduced at codons 125 and 126 (exon 3), resulting in Glu to Gly and Gly to Ser substitutions. The substitutions were within the P-box of the first zinc finger and were shown, in vitro, to abolish DNA-binding while retaining the ability to interact with T3 and cofactors. The mutations were verified by sequencing RT-PCR products. The self-excision of a neo cassette from intron 3 was confirmed, leaving a single loxP site. Western blot analysis showed endogenous levels of protein in homozygous mutant mice. (J:85158)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Thrb Mutation:
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3 strains or lines available |
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| References |
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Original: |
J:85158
Shibusawa N et al.,
"Thyroid hormone action in the absence of thyroid hormone receptor DNA-binding in vivo."
J Clin Invest 2003 Aug;112(4):588-97
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All: |
2 reference(s)
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