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| Nomenclature |
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Symbol:
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Tg(Ins2-TCF1*P291)2Kya
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Name:
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transgene insertion 2, Kazuya Yamagata
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MGI ID: |
MGI:2386579 |
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Transgene:
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Tg(Ins2-TCF1*P291)2Kya
Location:
unknown
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Transgene
origin |
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Strain of Origin:
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(C57BL/6 x SJL)F2
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Transgene
description |
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Transgene
Type: | |
Transgenic (random, expressed) |
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Mutation: | |
Insertion |
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Mutation details: This transgene was constructed by ligating the rat insulin II promoter to human cDNA associated with maturity-onset diabetes of the young, type III (MODY III). The human genetic sequence included a mutation found in a subject with MODY III, and had a frameshift mutation of codon pro291, resulting from insertion of a C in a poly(C) tract. (The investigators designated this mutation P291fsinsC, proline 291 frameshift insertion C.) In human subjects the mutation was predicted to result in a mutant truncated protein of 340 amino acids. Two transgenic mouse lines were established, one with 5 copies of the transgene, and one with 20. As both lines showed a similar phenotype, only one is described below, the line with 20 copies of the transgene. (J:73760)
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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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| References |
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Original: |
J:73760
Yamagata K et al.,
"Overexpression of dominant-negative mutant hepatocyte nuclear fctor-1 alpha in pancreatic beta-cells causes abnormal islet architecture with decreased expression of E-cadherin, reduced beta-cell proliferation, and diabetes."
Diabetes 2002 Jan;51(1):114-23
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All: |
2 reference(s)
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Analysis Tools
