Phenotypes Associated with This Genotype

Genotype
MGI:3628445

• Allelic Composition: Def6^{Gt(OST307148)Lex}/Def6^{Gt(OST307148)Lex}
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

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

immune system

decreased T cell apoptosis ( J:106469 )

• T cells from Def6-deficient mice are resistant to cell death

enlarged spleen ( J:106469 )

• beginning at 5 months of age, 60% of females develop splenomegaly

increased immature B cell number ( J:106469 )

• null females display an accumulation of undifferentiated B cells

increased T cell number ( J:106469 )

• null females display an accumulation of effector/memory T cells

increased memory T cell number ( J:106469 )

• null females display an accumulation of memory T cells

abnormal spleen germinal center morphology ( J:106469 )

• homozygous females have hyperplastic germinal centers in their spleens with an increase in IgG1+ B cells

increased immunoglobulin level ( J:106469 )

• male Def6-deficient mice have increased immunogloblulin levels compared to wild-type, but less severe than that observed in female mutants

increased IgG level ( J:106469 )

• aging females (>5 months old) display markedly elevated IgG levels

enlarged lymph nodes ( J:106469 )

• beginning at 5 months of age, 60% of females develop large nodal masses in the neck region; these contain multiple enlarged lymph nodes often 10 times larger than wild-type controls

• only 10% of males develop lymphoadenopathy, occurring around 15 months of age

abnormal cytokine secretion ( J:106469 )

• peripheral T cells from mutants show decreased production of Il-2 and Ifng

increased anti-nuclear antigen antibody level ( J:106469 )

• the majority of aging female null mice display high titers of anti-nuclear antibodies, detectable before visible lymphoadenopathy

hematopoietic system

decreased T cell apoptosis ( J:106469 )

• T cells from Def6-deficient mice are resistant to cell death

enlarged spleen ( J:106469 )

• beginning at 5 months of age, 60% of females develop splenomegaly

increased immature B cell number ( J:106469 )

• null females display an accumulation of undifferentiated B cells

increased T cell number ( J:106469 )

• null females display an accumulation of effector/memory T cells

increased memory T cell number ( J:106469 )

• null females display an accumulation of memory T cells

abnormal spleen germinal center morphology ( J:106469 )

• homozygous females have hyperplastic germinal centers in their spleens with an increase in IgG1+ B cells

increased immunoglobulin level ( J:106469 )

• male Def6-deficient mice have increased immunogloblulin levels compared to wild-type, but less severe than that observed in female mutants

increased IgG level ( J:106469 )

• aging females (>5 months old) display markedly elevated IgG levels

cellular

decreased T cell apoptosis ( J:106469 )

• T cells from Def6-deficient mice are resistant to cell death

growth/size/body

enlarged spleen ( J:106469 )

• beginning at 5 months of age, 60% of females develop splenomegaly

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
systemic lupus erythematosus		DOID:9074	OMIM:152700 OMIM:300809 OMIM:605480 OMIM:608437 OMIM:609903 OMIM:609939 OMIM:610065 OMIM:610066 OMIM:612254 OMIM:612378 OMIM:613145 OMIM:614420	J:106469