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| Nomenclature |
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Symbol:
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Thrbtm1Df
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Name:
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thyroid hormone receptor beta;
targeted mutation 1, Douglas Forrest
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MGI ID: |
MGI:1860434 |
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Synonyms: |
Thrb-, TRbeta- |
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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:34421
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Parent Cell Line:
| W9.5/W95 (ES Cell) |
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Strain of Origin:
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129S1/Sv-Oca2+ Tyr+ Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: Insertion of a neomycin cassette into exon 3, disrupts both the beta1 and beta2 isoforms of this gene. RT-PCR analysis identified a short transcript in homozygous mutant mice. Upon sequencing, this transcript revealed a deletion of exon 3 sequences, and fused beta1 exon 2 to exon 4. This results in an aberrant open reading frame, which terminates early into exon 4. No functional protein is predicted from this transcript, as the essential DNA binding and T3 binding domains not present.
(J:34421)
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Inheritance: | |
Recessive |
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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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| References |
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Original: |
J:34421
Forrest D et al.,
"Recessive resistance to thyroid hormone in mice lacking thyroid hormone receptor beta: evidence for tissue-specific modulation of receptor function."
EMBO J 1996 Jun 17;15(12):3006-15
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All: |
50 reference(s)
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Analysis Tools
