Ins2^Akita
Spontaneous Allele Detail

Summary

• Symbol: Ins2^Akita
• Name: insulin II; Akita
• MGI ID: MGI:1857572
• Synonyms: Akita, Akita^Ins2, Ins2^C96Y, Ins2^Mody, Mody, Mody4
• Gene: Ins2 Location: Chr7:142232393-142233463 bp, - strand Genetic Position: Chr7, 88.0 cM
• Alliance: Ins2^Akita page

Abnormal glucose and insulin homeostasis in Ins2^Akita/Ins2^Akita and Ins2^Akita/Ins2^Akita Cebpb^tm1.1Maka/Cebpb^tm1.1Maka Tg(Ins2-cre)23Herr/0 but not Cebpb^tm1.1Maka/Cebpb^tm1.1Maka Tg(Ins2-cre)23Herr/0 mice.

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

Mutation origin

• Strain of Origin: C57BL/6NSlc

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• 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)
• Inheritance: Dominant

Disease models

Expression

In Mice Carrying this Mutation:	4 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	27 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Ins2^Akita

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 14 strains available Cell Lines: 0 lines available
• Carrying any Ins2 Mutation: 93 strains or lines available

References

• 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: 387 reference(s)