Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Tumor data | Find Mice (IMSR) | References

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 Alliance: Ins2Akita page

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 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

View phenotypes and curated references for all genotypes (concatenated display).

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

List all tumor models in MMHCdb carrying Ins2Akita

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

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)