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Spontaneous Allele Detail
Symbol: Ins2Akita
Name: insulin II; Akita
MGI ID: MGI:1857572
Synonyms: Akita, AkitaIns2, Ins2C96Y, Ins2Mody, Mody, Mody4
Gene: Ins2  Location: Chr7:142678656-142699510 bp, - strand  Genetic Position: Chr7, 88.0 cM
Abnormal glucose and insulin homeostasis in Ins2Akita/Ins2Akita and Ins2Akita/Ins2Akita Cebpbtm1.1Maka/Cebpbtm1.1Maka Tg(Ins2-cre)23Herr/0 but not Cebpbtm1.1Maka/Cebpbtm1.1Maka Tg(Ins2-cre)23Herr/0 mice.

Show the 1 phenotype image(s) involving this allele.

Strain of Origin:  C57BL/6NSlc
Allele Type:    Spontaneous
Mutation:    Single point mutation
Mutation detailsIn the mutant allele a transition from G to A at nucleotide 1907 disrupted an Fnu4HI site in exon 3. This mutation changed the seventh amino acid in the A chain of mature insulin, Cys96 (TGC), to Tyr (TAC). The authors predict that the transition would disrupt a disulfide bond between the A and the B chains and would likely induce a major conformational change in insulin 2 molecules. RT-PCR studies suggest that both normal and mutant Ins2 alleles are transcribed similarly in pancreatic islets of heterozygous mice, although immunofluorescence and immunoblot analyses of heterozygous islets detected reduced levels of insulin and proinsulin. (J:51935)
Inheritance:    Dominant
View phenotypes for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 13 strains available      Cell Lines: 0 lines available
Carrying any Ins2 Mutation:  25 strains or lines available
Phenotypic Similarity to Human Syndrome: Type 1 Diabetic Macrovascular Disease (J:174983)

Original:  J:40063 Yoshioka M, et al., A novel locus, Mody4, distal to D7Mit189 on chromosome 7 determines early-onset NIDDM in nonobese C57BL/6 (Akita) mutant mice. Diabetes. 1997 May;46(5):887-94
All:  160 reference(s)

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