Phenotypes Associated with This Genotype

Genotype
MGI:3711109

• Allelic Composition: B2m^tm1Unc/B2m^tm1Unc; Tg(HLA-A/H2-D/B2M)1Dvs/0
• Genetic Background: NOD.Cg-B2m^tm1Unc Tg(HLA-A/H2-D/B2M)1Dvs

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

immune system

decreased CD8-positive, alpha-beta T cell number ( J:121685 )

• CD8+ T cells develop, but at significantly reduced numbers (~10%) compared to NOD controls

abnormal cell-mediated immunity ( J:121685 )

• HLA-A2.1-restricted T cells from mice as young as 5 weeks of age respond to IGRP (islet-specific glucose-6-phophatase catalytic subunit-related protein) peptides

abnormal CD8-positive, alpha-beta T cell physiology ( J:121685 )

• islet-infiltrating T cells show different patterns of recognition to various IGRP peptides; peptide 228-236 is immunodominant HLA-A2.1-binding epitope of IGRP in 12-13 week old nondiabetic female mice

abnormal cytotoxic T cell physiology ( J:121685 )

• T cells from islets show HLA-A2-restricted cytotoxicity against human HLA-A2.1-positive human pancreatic islets, as well as mouse islets

increased susceptibility to autoimmune diabetes ( J:121685 )

• 55% of females develop type I diabetes by 30 weeks of age, with significantly accelerated onset compared with non transgenic littermates

hematopoietic system

decreased CD8-positive, alpha-beta T cell number ( J:121685 )

• CD8+ T cells develop, but at significantly reduced numbers (~10%) compared to NOD controls

abnormal CD8-positive, alpha-beta T cell physiology ( J:121685 )

• islet-infiltrating T cells show different patterns of recognition to various IGRP peptides; peptide 228-236 is immunodominant HLA-A2.1-binding epitope of IGRP in 12-13 week old nondiabetic female mice

abnormal cytotoxic T cell physiology ( J:121685 )

• T cells from islets show HLA-A2-restricted cytotoxicity against human HLA-A2.1-positive human pancreatic islets, as well as mouse islets

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
type 1 diabetes mellitus		DOID:9744	OMIM:222100	J:121685