Phenotypes Associated with This Genotype

Genotype
MGI:4461059

• Allelic Composition: Igh-J^tm1Aigl/Igh-J⁺; Tg(Tcra2D2,Tcrb2D2)1Kuch/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

behavior/neurological

paralysis ( J:151335 )

• disease started between 7 and 10 weeks of age, with classical paralytic EAE signs

immune system

increased susceptibility to experimental autoimmune encephalomyelitis ( J:151335 )

• fifty percent spontaneously develop opticospinal myelitis

CNS inflammation ( J:151335 )

• inflammatory infiltrates in the trigeminal ganglia, spinal ganglia, spinal roots despite the absence of MOG within these tissues

muscle

muscle hypertonia ( J:151335 )

• in a minority of cases, with a spastic component

nervous system

CNS inflammation ( J:151335 )

• inflammatory infiltrates in the trigeminal ganglia, spinal ganglia, spinal roots despite the absence of MOG within these tissues

abnormal nervous system morphology ( J:151335 )

• inflammatory infiltrates in the peripheral nervous system despite the absence of MOG within these tissues

abnormal optic nerve morphology ( J:151335 )

• lesions consisting of lymphocytic infiltration, demyelation and axonal damage in optic nerve

abnormal spinal cord morphology ( J:151335 )

• lesions consisting of lymphocytic infiltration, demyelation and axonal damage in the spinal cord

demyelination ( J:151335 )

• within the spinal cord and optic nerve

vision/eye

abnormal optic nerve morphology ( J:151335 )

• lesions consisting of lymphocytic infiltration, demyelation and axonal damage in optic nerve

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
multiple sclerosis		DOID:2377	OMIM:612594 OMIM:612595 OMIM:612596	J:151335