Phenotypes Associated with This Genotype

Genotype
MGI:5635492

• Allelic Composition: H2^dlAb1-Ea/H2^dlAb1-Ea; Tg(HLA-DRA,HLA-DRB5*0101)hiKito/0; Tg(TRATL3A6,TRBTL3A6)#Kito/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

immune system

increased CD4-positive, alpha-beta T cell number ( J:189816 )

• mice show greater numbers of Th1-, Th17-, and GM-CSF⁺-expressing CD4 T cells in response to MBP (83-99)

• mice that spontaneously develop EAE have greater numbers of MBP-specific Th1, and GM-CDF+ CD4+ T cells in the CNS during the course of spontaneous EAE

increased T-helper 1 cell number ( J:189816 )

• in both induced and spontaneous EAE mice

increased T-helper 17 cell number ( J:189816 )

• in both induced and spontaneous EAE mice

abnormal cytokine secretion ( J:189816 )

• mice show an increased production of IFN-gamma, IL-17, and GM-CSF cytokines in response to MBP (83-99)

• mice that spontaneously develop EAE exhibit an increased production of IFN-gamma, IL-7 and GM-CSF cytokines in the CNS

increased interferon-gamma secretion ( J:189816 )

• in both induced and spontaneous EAE mice

increased interleukin-17 secretion ( J:189816 )

• in both induced and spontaneous EAE mice

increased susceptibility to experimental autoimmune encephalomyelitis ( J:189816 )

• mice rarely exhibit experimental autoimmune encephalitis (EAE) when immunized with CFA or pertussis alone, but immunization with MBP (83-99) in CFA with pertussis elicits encephalitis in 90% of mice

increased inflammatory response ( J:189816 )

• mice that develop either induced or spontaneous EAE show mild redicultis of the spinal nerve root and mild neuritis of the cranial nerve root in less than 50% of sections examined

CNS inflammation ( J:189816 )

• mice that develop either induced or spontaneous EAE show severe/moderate inflammation in the spinal cord (meningomyelitis), with lesser involvement of the brainstem and infiltrates contain predominantly CD4+ T cells and mononuclear cells, as well as polymorphnuclear leukocytes/granulocytes

brain inflammation ( J:189816 )

• mice develop spontaneous experimental autoimmune encephalitis (EAE) with an incidence of 4.5%; onset of disease is around 10 weeks of age

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:189816 )

• both induced and spontaneous EAE mice develop ascending motor deficits

hematopoietic system

increased CD4-positive, alpha-beta T cell number ( J:189816 )

• mice show greater numbers of Th1-, Th17-, and GM-CSF⁺-expressing CD4 T cells in response to MBP (83-99)

• mice that spontaneously develop EAE have greater numbers of MBP-specific Th1, and GM-CDF+ CD4+ T cells in the CNS during the course of spontaneous EAE

increased T-helper 1 cell number ( J:189816 )

• in both induced and spontaneous EAE mice

increased T-helper 17 cell number ( J:189816 )

• in both induced and spontaneous EAE mice

nervous system

CNS inflammation ( J:189816 )

• mice that develop either induced or spontaneous EAE show severe/moderate inflammation in the spinal cord (meningomyelitis), with lesser involvement of the brainstem and infiltrates contain predominantly CD4+ T cells and mononuclear cells, as well as polymorphnuclear leukocytes/granulocytes

brain inflammation ( J:189816 )

• mice develop spontaneous experimental autoimmune encephalitis (EAE) with an incidence of 4.5%; onset of disease is around 10 weeks of age

abnormal axon morphology ( J:189816 )

• both induced and spontaneous EAE mice exhibit swollen axons throughout the spinal cord

neuron degeneration ( J:189816 )

• both induced and spontaneous EAE mice exhibit degenerating neurons throughout the spinal cord

axon degeneration ( J:189816 )

• both induced and spontaneous EAE mice exhibit loss of axons

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
multiple sclerosis		DOID:2377	OMIM:612594 OMIM:612595 OMIM:612596	J:189816