Phenotypes Associated with This Genotype

Genotype
MGI:3617533

• Allelic Composition: Ciita^tm1Ccum/Ciita^tm1Ccum
• Genetic Background: NOD.129S2(B6)-Ciita^tm1Ccum

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

homeostasis/metabolism

abnormal circulating glucose level ( J:106081 )

• on the NOD background, by 35 weeks of age and later, no mutants show hyperglycemia while 40% of NOD-sufficient mice develop diabetes by 35 weeks of age

immune system

abnormal T cell differentiation ( J:106081 )

decreased CD4-positive, alpha-beta T cell number ( J:106081 )

• a 10-fold reduction in levels of peripheral CD4+ T cells is observed compared to controls

increased CD8-positive, alpha-beta T cell number ( J:106081 )

• CD8+ T cells are slightly over-represented in mutants (25%) compared to controls (16%)

abnormal level of surface class II molecules ( J:106081 )

• MHC class II molecule expression is almost completely absent from spleen cells

decreased susceptibility to autoimmune diabetes ( J:107051 )

• mice do not develop diabetes (2 consecutive blood glucose measures >16.5 nM) up to 30 weeks of age

abnormal inflammatory response ( J:106081 )

pancreas inflammation ( J:106081 )

• female mutants show pancreatic infiltration by 15 weeks of age

insulitis ( J:107051 )

• when recovered from NOD diabetic female recipients, islet grafts obtained from these class II-deficient NOD mice show severe infiltration and lack almost all insulin production

periinsulitis ( J:106081 )

• at 15 weeks of age, around 2% of islets in female mutants show perinsulitis or insulitis compared with 75% in pre-diabetic and diabetic mice

hematopoietic system

abnormal T cell differentiation ( J:106081 )

decreased CD4-positive, alpha-beta T cell number ( J:106081 )

• a 10-fold reduction in levels of peripheral CD4+ T cells is observed compared to controls

increased CD8-positive, alpha-beta T cell number ( J:106081 )

• CD8+ T cells are slightly over-represented in mutants (25%) compared to controls (16%)

endocrine/exocrine glands

pancreas inflammation ( J:106081 )

• female mutants show pancreatic infiltration by 15 weeks of age

insulitis ( J:107051 )

• when recovered from NOD diabetic female recipients, islet grafts obtained from these class II-deficient NOD mice show severe infiltration and lack almost all insulin production

periinsulitis ( J:106081 )

• at 15 weeks of age, around 2% of islets in female mutants show perinsulitis or insulitis compared with 75% in pre-diabetic and diabetic mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	type 1 diabetes mellitus	DOID:9744	OMIM:222100	J:106081