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)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
(C57BL/6 x SJL)F2
--
Insertion
--
1
--
2

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

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PMID
Journal
Year
IF
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