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| Nomenclature |
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Symbol:
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Thrbtm2Few
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Name:
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thyroid hormone receptor beta;
targeted mutation 2, Frederic E Wondisford
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MGI ID: |
MGI:2183367 |
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Synonyms: |
TRbetadelta337T |
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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:77623
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129X1/SvJ
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: The deletion of 3 base pairs in exon 6, corresponding to a deletion that results in thyroid horomone resistance in humans, was introduced via site-directed mutagenesis along with a neomycin selection cassette inserted into intron 5. The mutation in exon 6 affects the ligand-binding domain which is common to both isoforms produced from this locus. Presence of the mutation was confirmed via an RNAse protection assay and sequence analysis. (J:77623)
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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:77623
Hashimoto K et al.,
"An unliganded thyroid hormone receptor causes severe neurological dysfunction."
Proc Natl Acad Sci U S A 2001 Mar 27;98(7):3998-4003
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All: |
6 reference(s)
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Analysis Tools
