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Phenotypes Associated with This Genotype
Genotype
MGI:3628445
Allelic
Composition
Def6Gt(OST307148)Lex/Def6Gt(OST307148)Lex
Genetic
Background
involves: 129S5/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Def6Gt(OST307148)Lex mutation (1 available); any Def6 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• beginning at 5 months of age, 60% of females develop splenomegaly

immune system
• T cells from Def6-deficient mice are resistant to cell death
• beginning at 5 months of age, 60% of females develop splenomegaly
• null females display an accumulation of undifferentiated B cells
• null females display an accumulation of effector/memory T cells
• null females display an accumulation of memory T cells
• homozygous females have hyperplastic germinal centers in their spleens with an increase in IgG1+ B cells
• male Def6-deficient mice have increased immunogloblulin levels compared to wild-type, but less severe than that observed in female mutants
• aging females (>5 months old) display markedly elevated IgG levels
• 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
• peripheral T cells from mutants show decreased production of Il-2 and Ifng
• the majority of aging female null mice display high titers of anti-nuclear antibodies, detectable before visible lymphoadenopathy

hematopoietic system
• T cells from Def6-deficient mice are resistant to cell death
• beginning at 5 months of age, 60% of females develop splenomegaly
• null females display an accumulation of undifferentiated B cells
• null females display an accumulation of effector/memory T cells
• null females display an accumulation of memory T cells
• homozygous females have hyperplastic germinal centers in their spleens with an increase in IgG1+ B cells
• male Def6-deficient mice have increased immunogloblulin levels compared to wild-type, but less severe than that observed in female mutants
• aging females (>5 months old) display markedly elevated IgG levels

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/24/2023
MGI 6.22
The Jackson Laboratory