Thrbtm1Syc
Targeted Allele Detail
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| Symbol: |
Thrbtm1Syc |
| Name: |
thyroid hormone receptor beta; targeted mutation 1, Sheue-yann Cheng |
| MGI ID: |
MGI:2137591 |
| Synonyms: |
TRbetaPVNeoR |
| Gene: |
Thrb Location: Chr14:4431611-4809435 bp, - strand Genetic Position: Chr14, 7.08 cM, cytoband A3
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| Alliance: |
Thrbtm1Syc page
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| Germline Transmission: |
Earliest citation of germline transmission:
J:65885
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| Parent Cell Line: |
TC1/TC-1 (ES Cell)
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| Strain of Origin: |
129S6/SvEvTac
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| Allele Type: |
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Targeted |
| Mutation: |
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Insertion
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Mutation details: Insertion of a gene targeting cassette into the gene introduced a PV mutation into exon 10, and a floxed neomycin resistance gene 1kb downstream of the polyadenylation site. Northern blot analyses indicate that expression of the mutated allele was repressed as compared to the wild-type allele. The PV mutation contains a C insertion at coding nucleotide position 1642 (codon 448) which in human patients leads to a frame shift of the carboxyl-terminal 14 amino acids of the protein and results in total loss of T3 binding and transcriptional activation. Human patients with this mutation manifest resistance to thyroid hormone (RTH). The PV mutation was originally identified in a patient with severe growth impairment.
(J:65885)
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| Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
| Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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| Carrying any Thrb Mutation: |
39 strains or lines available
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| Original: |
J:65885 Kaneshige M, et al., Mice with a targeted mutation in the thyroid hormone beta receptor gene exhibit impaired growth and resistance to thyroid hormone. Proc Natl Acad Sci U S A. 2000 Nov 21;97(24):13209-14 |
| All: |
1 reference(s) |
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Analysis Tools
