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Tg(Ins2-TCF1*P291)2Kya
Transgene Detail
Summary
Symbol: Tg(Ins2-TCF1*P291)2Kya
Name: transgene insertion 2, Kazuya Yamagata
MGI ID: MGI:2386579
Transgene: Tg(Ins2-TCF1*P291)2Kya  Location: unknown  
Alliance: Tg(Ins2-TCF1*P291)2Kya page
Transgene
origin
Strain of Origin:  (C57BL/6 x SJL)F2
Transgene
description
Transgene Type:    Transgenic (Inserted expressed sequence)
Mutation:    Insertion
 
Tg(Ins2-TCF1*P291)2Kya expresses 1 gene
 
Mutation detailsThis 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structure(s)
Find Mice (IMSR)
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
References
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory