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Ins2Akita
Spontaneous Allele Detail
Summary
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.

Mutation
origin
Strain of Origin:  C57BL/6NSlc
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsIn 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 3 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 Ins2Akita
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:  375 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory