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Mouse Strain information

APB ID

8827

Added

20/11/2019

Last Edited

05/12/2019

Strain nomenclature:

C57BL/6JArc-Ins2Akita/AnuApb

Nickname:

ASD534:C57BL/6-Ins2Akita/JArc:::G12

Genetics

Strain Types

Mutant strain

Genetic Details

Other mutation type
Spontaneous

Mode of Inheritance

Dominant

1. Affected Gene Name: insulin II

Chromosome	7
Affected Gene Symbol	Ins2
Genetic alteration of gene:	In 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.
Location on chromosome (bp):	142678656-142679726 bp, - strand (From NCBI annotation of GRCm38)
MGI Gene Accession ID Please also use this link to determine if other mutants have been registered with MGI (Mouse Genome Informatics)	MGI:96573
Synonyms	Ins-2, InsII, Mody, Mody4
Allele Name	insulin II; Akita
Allele Symbol	Ins2Akita
MGI Allele Accession ID	MGI:1857572
Allele synonyms:	Akita, AkitaIns2, Ins2C96Y, Ins2Mody, Mody, Mody4

Mutant Construction Technique

None

Phenotype

Phenotype Homozygous State

Postnatal lethality. Hyperglycemia: • blood glucose levels are slightly higher at 1 day of age and much higher at 14 days of age with no gender differences seen. Abnormal pancreatic alpha cell morphology: • alpha cell density is markedly increased Abnormal pancreatic beta cell morphology: • density of beta cells is decreased within 24 hours of birth and at 2 weeks of age • beta cell granules are fewer in number and smaller and mitochondrial swelling and an increase in endoplasmic reticulum are seen at 2 weeks of age Small pancreatic islets: • islet area is reduced Decreased insulin secretion: • the pancreatic ratio of insulin to glucagon is decreased to 0.21 and 0.01 at birth and 14 days of age, respectively, compared to 1.17 and 1.11 in wild-type mice. Premature death: • untreated homozygous mice rarely survive past 12 weeks of age, with death resulting from extreme hyperglycemia;

Phenotype Heterozygous State

unknown

Original Genetic Background

C57BL/6J

Genetic Background Currently Maintained

C57BL/6J

Strain identification

How is this strain characterised?

Genotyping

Fertility and Strain maintenance

Fertility and Strain maintenance

Relevant bibliographic / database references

Strain Specific References

Other Related References

General information

Associated IP rights?

Unknown

Does it Model a Human Condition?

Unknown

Applicable Research Areas

Diabetes

Keywords

Hypoglycaemia

Is the strain available in any form to other researchers

Yes

APB stock stored as:

Cryopreserved sperm (from 5 mice)

Are live mice available?

Unknown

MTA needs to be signed?

Yes