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| Nomenclature |
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Symbol:
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Gtf2ird1tm1Hrd
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Name:
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general transcription factor II I repeat domain-containing 1;
targeted mutation 1, Edna C Hardeman
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MGI ID: |
MGI:4454555 |
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Gene:
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Gtf2ird1
Location:
Chr5:134357669-134456716 bp, - strand
Genetic Position: Chr5,
74.55 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:159762
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Exon 2 was replaced with a floxed neo cassette. Cre mediated recombination removed the neo cassette. The absence of protein expression was confirmed by western blot analysis. (J:159762)
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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 Gtf2ird1 Mutation:
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303 strains or lines available |
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| References |
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Original: |
J:159762
Palmer SJ et al.,
"Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism."
J Biol Chem 2010 Feb 12;285(7):4715-24
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All: |
2 reference(s)
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Analysis Tools
