Phenotypes associated with this allele

• Allele Symbol: Ins2^em#Arak
• Allele Name: endonuclease-mediated mutation, Kimi Araki
• Allele ID: MGI:6478807
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Ins2^em#Arak/Ins2^+	C.129-Rag2^tm1Fwa Ins2^em#Arak Jak3^tm1Tks/Arak	MGI:6478875

Genotype
MGI:6478875

ht1

• Allelic Composition: Ins2^em#Arak/Ins2⁺
• Genetic Background: C.129-Rag2^tm1Fwa Ins2^em#Arak Jak3^tm1Tks/Arak

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

endocrine/exocrine glands

abnormal pancreatic islet morphology ( J:294041 )

• islets show a reduction in insulin protein level at 3 weeks of age, which is further decreased at 7 weeks of age

abnormal pancreatic beta cell morphology ( J:294041 )

• islet insulin-positive beta-cell area becomes significantly smaller at 10 weeks of age

• islet beta cells show a reduction in number and size of insulin granules in 5-week old mice

• cores of insulin granules are less electron-dense than in wild-type mice, indicating immature beta cells

• endoplasmic reticulum shows dilated vesicular morphologies in beta cells

• reduction in insulin granule area in proportion to the beta cells area

small pancreatic islets ( J:294041 )

• islet size becomes significantly smaller at 10 weeks of age

• islet mass is decreased in 7-week old mice

• mice transplanted with insulin implants show no difference in islet size from untreated mice

homeostasis/metabolism

abnormal homeostasis ( J:294041 )

• mice exhibit non-obese permanent neonatal diabetes

hyperglycemia ( J:294041 )

• hyperglycemia in males and females from 4 weeks of age and on

• females show milder hyperglycemia than males

• mice transplanted with insulin implants show normalized hyperglycemia that is sustained for a month; removal of transplant results in recurrence of hyperglycemia

impaired glucose tolerance ( J:294041 )

• mice are glucose intolerant

• however, males how normal insulin tolerance at 4- and 10-weeks of age

renal/urinary system

polyuria ( J:294041 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neonatal diabetes		DOID:11717		J:294041