Phenotypes Associated with This Genotype

Genotype
MGI:3575716

• Allelic Composition: Sh2d1a^tm1Lyin/Sh2d1a^tm1Lyin
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

hematopoietic system

increased CD8-positive, alpha-beta T cell number ( J:97346 )

♀ • CD8+ T cell numbers are significantly increased relative to controls after gammaherpesvirus-68 infections

decreased immunoglobulin level ( J:97346 )

♀

decreased IgE level ( J:97346 )

♀ • deficiency present at all ages

decreased IgG level ( J:97346 )

♀ • levels were consistently lower than normal

immune system

increased CD8-positive, alpha-beta T cell number ( J:97346 )

♀ • CD8+ T cell numbers are significantly increased relative to controls after gammaherpesvirus-68 infections

abnormal immune system physiology ( J:97346 )

♀

decreased immunoglobulin level ( J:97346 )

♀

decreased IgE level ( J:97346 )

♀ • deficiency present at all ages

decreased IgG level ( J:97346 )

♀ • levels were consistently lower than normal

chronic inflammation ( J:97346 )

♀ • although response to gammaherpesvirus-68 function was similar to wild-type in that there was no observed mortality and morbidity and acute viral infections were cleared, severe and persistent inflammatory responses were found in lungs and liver that were much slower to resolve

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked lymphoproliferative syndrome 1		DOID:0060705	OMIM:308240	J:97346