Phenotypes Associated with This Genotype

Genotype
MGI:5312059

• Allelic Composition: Slc29a3^tm1Lex/Slc29a3^tm1Lex
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6

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

mortality/aging

increased susceptibility to bacterial infection induced morbidity/mortality ( J:179286 )

• in L. monocytogenes-infected mice

premature death ( J:179286 )

immune system

immune system phenotype ( J:179286 )

N • mice exhibit normal serum cytokine production

enlarged spleen ( J:179286 )

• by 8 weeks of age

myeloid hyperplasia ( J:179286 )

• bone marrow cells exhibit increased granulocyte/macrophage colony formation compared with wild-type cells

abnormal macrophage morphology ( J:179286 )

• enlarged lysosomes containing undigested materials

increased macrophage cell number ( J:179286 )

• at 3 weeks of age, mice exhibit increased macrophage in the spleen compared with wild-type mice

• mice exhibit macrophage infiltration in multiple organs (including spleen, liver, pancreas and intestine) that worsens with age unlike in wild-type mice

• however, treatment with anti-macrophage colony-stimulating factor antibodies reduces splenic macrophage numbers

abnormal macrophage physiology ( J:179286 )

• macrophage proliferation and apoptosis are increased compared to in wild-type mice

• bone marrow-derived macrophage exhibit delayed degradation of apoptotic thymocytes and bacterial killing compared with wild-type cells

• bone marrow-derived macrophage challenged with exogenous apoptotic thymocytes exhibit an accumulation of adenosine in whole-cell extracts and purified lysosomal fraction

• however, bone marrow-derived macrophage exhibit normal phagocytosis and phagosome-lysosome fusion

increased macrophage apoptosis ( J:179286 )

• mice exhibit an increase in the absolute number of apoptotic macrophage compared with wild-type mice

enlarged lymph nodes ( J:179286 )

• by 8 weeks of age

increased susceptibility to bacterial infection ( J:179286 )

• L. monocytogenes-infected mice exhibit increased bacterial load and lethality compared with wild-type mice

increased susceptibility to bacterial infection induced morbidity/mortality ( J:179286 )

• in L. monocytogenes-infected mice

hematopoietic system

enlarged spleen ( J:179286 )

• by 8 weeks of age

myeloid hyperplasia ( J:179286 )

• bone marrow cells exhibit increased granulocyte/macrophage colony formation compared with wild-type cells

extramedullary hematopoiesis ( J:179286 )

• extramedullary myelopoiesis without an acute inflammatory response due to defects in hematopoietic cells

abnormal macrophage morphology ( J:179286 )

• enlarged lysosomes containing undigested materials

increased macrophage cell number ( J:179286 )

• at 3 weeks of age, mice exhibit increased macrophage in the spleen compared with wild-type mice

• mice exhibit macrophage infiltration in multiple organs (including spleen, liver, pancreas and intestine) that worsens with age unlike in wild-type mice

• however, treatment with anti-macrophage colony-stimulating factor antibodies reduces splenic macrophage numbers

abnormal macrophage physiology ( J:179286 )

• macrophage proliferation and apoptosis are increased compared to in wild-type mice

• bone marrow-derived macrophage exhibit delayed degradation of apoptotic thymocytes and bacterial killing compared with wild-type cells

• bone marrow-derived macrophage challenged with exogenous apoptotic thymocytes exhibit an accumulation of adenosine in whole-cell extracts and purified lysosomal fraction

• however, bone marrow-derived macrophage exhibit normal phagocytosis and phagosome-lysosome fusion

increased macrophage apoptosis ( J:179286 )

• mice exhibit an increase in the absolute number of apoptotic macrophage compared with wild-type mice

cellular

increased macrophage apoptosis ( J:179286 )

• mice exhibit an increase in the absolute number of apoptotic macrophage compared with wild-type mice

abnormal lysosome physiology ( J:179286 )

• accumulation of adenosine in whole-cell extracts and purified lysosomes derived from splenic macrophage indicate impaired lysosomal nucleoside export

neoplasm

increased histiocytic sarcoma incidence ( J:179286 )

• in moribund mice

• however, treatment with anti-macrophage colony-stimulating factor antibodies partially rescues histocytic phenotype

growth/size/body

enlarged spleen ( J:179286 )

• by 8 weeks of age