Tg(Ins2-TCF1*P291)2Kya
Transgene Detail
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Symbol: |
Tg(Ins2-TCF1*P291)2Kya |
Name: |
transgene insertion 2, Kazuya Yamagata |
MGI ID: |
MGI:2386579 |
Transgene: |
Tg(Ins2-TCF1*P291)2Kya Location: unknown
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Alliance: |
Tg(Ins2-TCF1*P291)2Kya page
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Strain of Origin: |
(C57BL/6 x SJL)F2
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Transgene Type: |
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Transgenic (Inserted expressed sequence) |
Mutation: |
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Insertion
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Tg(Ins2-TCF1*P291)2Kya expresses
1 gene
Transgene expresses:
Organism |
Expressed Gene |
Homolog in Mouse |
Note |
human |
HNF1A (6927) |
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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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View phenotypes and curated references for all genotypes (concatenated display).
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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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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 |
All: |
2 reference(s) |
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