Phenotypes Associated with This Genotype

Genotype
MGI:3831539

• Allelic Composition: Sac3d1^tm1Hnaka/Sac3d1^tm1Hnaka
• Genetic Background: involves: 129P2/OlaHsd

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

immune system

increased T cell proliferation ( J:144601 )

• CD4⁺ T cells show a greater proliferative response to TCR stimulation ranging from 1.5-fold to 11-fold depending on the amount of stimulation

• greatest differences in proliferative response were noted at low doses of anti-CD3 stimulation

thymus hyperplasia ( J:144601 )

• thymus cellularity is increased 1.9-fold compared to controls

spleen hyperplasia ( J:144601 )

• spleen cellularity is increased 1.4-fold compared to controls

abnormal mast cell physiology ( J:144601 )

• mast cells proliferate faster in response to low and high doses of IL-3

abnormal B cell physiology ( J:144601 )

• B cells have a 3-fold greater production of IgM in response to IL-5+ anti-CD40 in vitro

hematopoietic system

increased T cell proliferation ( J:144601 )

• CD4⁺ T cells show a greater proliferative response to TCR stimulation ranging from 1.5-fold to 11-fold depending on the amount of stimulation

• greatest differences in proliferative response were noted at low doses of anti-CD3 stimulation

thymus hyperplasia ( J:144601 )

• thymus cellularity is increased 1.9-fold compared to controls

spleen hyperplasia ( J:144601 )

• spleen cellularity is increased 1.4-fold compared to controls

abnormal bone marrow cell morphology/development ( J:144601 )

• bone marrow cells cultured in vitro with IL-3 and GM-CSF have a 3 to 6 times faster proliferation rate than controls

abnormal common myeloid progenitor cell morphology ( J:144601 )

• there is about a 30% increase in the number of GM progenitors in the bone marrow compared to controls

increased erythroid progenitor cell number ( J:144601 )

• 3-fold increase in the numbers BFU-E progenitors in the bone marrow compared to controls

• there is about a 30% increase in the number of GM progenitors in the bone marrow compared to controls

abnormal mast cell physiology ( J:144601 )

• mast cells proliferate faster in response to low and high doses of IL-3

abnormal B cell physiology ( J:144601 )

• B cells have a 3-fold greater production of IgM in response to IL-5+ anti-CD40 in vitro

endocrine/exocrine glands

thymus hyperplasia ( J:144601 )

• thymus cellularity is increased 1.9-fold compared to controls

growth/size/body

spleen hyperplasia ( J:144601 )

• spleen cellularity is increased 1.4-fold compared to controls

cellular

increased T cell proliferation ( J:144601 )

• CD4⁺ T cells show a greater proliferative response to TCR stimulation ranging from 1.5-fold to 11-fold depending on the amount of stimulation

• greatest differences in proliferative response were noted at low doses of anti-CD3 stimulation