Ins2Akita
Spontaneous Allele Detail
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Symbol: |
Ins2Akita |
Name: |
insulin II; Akita |
MGI ID: |
MGI:1857572 |
Synonyms: |
Akita, AkitaIns2, Ins2C96Y, Ins2Mody, Mody, Mody4 |
Gene: |
Ins2 Location: Chr7:142232393-142233463 bp, - strand Genetic Position: Chr7, 88.0 cM
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Alliance: |
Ins2Akita page
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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.
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Allele Type: |
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Spontaneous |
Mutation: |
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Single point mutation
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Mutation details: In the mutant allele a transition from G-to-A at coding nucleotide 287 disrupts 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) (p.C96Y). 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)
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Inheritance: |
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Dominant |
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View phenotypes and curated references for all genotypes (concatenated display).
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List all tumor models in MMHCdb carrying
Ins2Akita
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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: |
375 reference(s) |
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