Phenotypes Associated with This Genotype

Genotype
MGI:3578158

• Allelic Composition: Mbl1^tm1Kata/Mbl1^tm1Kata; Mbl2^tm1Kata/Mbl2^tm1Kata
• Genetic Background: involves: 129 * C57BL/6

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

immune system

impaired macrophage phagocytosis ( J:98124 , J:97686 )

• showed a 40% reduction in bacterial phagocytosis by resident peritoneal macrophages (J:98124)

• demonstrated defective apoptotic cell clearance (16% of macrophages phagocytosed compared to more than 25% in wildtype), however did not develop spontaneous autoimmunity (J:97686)

• 38% decrease in percentage of phagocytic cells (J:97686)

abnormal B cell number ( J:97686 )

decreased germinal center B cell number ( J:97686 )

• more than 60% decrease in germinal center B cell numbers

increased B-1 B cell number ( J:97686 )

• increased number of peritoneal B1 cells, however no lymphoproliferation occurred

decreased macrophage cell number ( J:98124 )

• double homozygous mutants rendered neutropenic by cyclophosphamide (CY) injection had an 80% decrease in resident peritoneal macrophages

decreased monocyte cell number ( J:98124 )

• double homozygous mutants rendered neutropenic by cyclophosphamide (CY) injection had an 80% decrease in circulating monocytes

abnormal circulating interleukin-6 level ( J:98124 )

• serum IL-6 levels were reduced at 2 hours after S. aureus inoculation, however levels were increased 8-fold at 24 hours after inoculation compared to wildtype

abnormal circulating tumor necrosis factor level ( J:98124 )

• serum TNF-alpha levels were reduced at 2 hours after S. aureus inoculation, however levels were increased 15-fold at 24 hours after inoculation compared to wildtype

increased susceptibility to bacterial infection ( J:98124 )

• 100% of double mutants died 48 hours after S. aureus infection compared to 45% of wildtype

• statistically significant higher bacterial loads were found in the kidney, spleen, liver and blood compared with wildtype at 24 hours after S. aureus inoculation

• double homozygous mutants rendered neutropenic by cyclophosphamide (CY) injection exhibited increased susceptibility to bacterial infection with 21/29 developing abscesses in various organs compared to 3/15 of wildtype

hematopoietic system

impaired macrophage phagocytosis ( J:98124 , J:97686 )

• showed a 40% reduction in bacterial phagocytosis by resident peritoneal macrophages (J:98124)

• demonstrated defective apoptotic cell clearance (16% of macrophages phagocytosed compared to more than 25% in wildtype), however did not develop spontaneous autoimmunity (J:97686)

• 38% decrease in percentage of phagocytic cells (J:97686)

abnormal B cell number ( J:97686 )

decreased germinal center B cell number ( J:97686 )

• more than 60% decrease in germinal center B cell numbers

increased B-1 B cell number ( J:97686 )

• increased number of peritoneal B1 cells, however no lymphoproliferation occurred

decreased macrophage cell number ( J:98124 )

• double homozygous mutants rendered neutropenic by cyclophosphamide (CY) injection had an 80% decrease in resident peritoneal macrophages

decreased monocyte cell number ( J:98124 )

• double homozygous mutants rendered neutropenic by cyclophosphamide (CY) injection had an 80% decrease in circulating monocytes

homeostasis/metabolism

abnormal circulating interleukin-6 level ( J:98124 )

• serum IL-6 levels were reduced at 2 hours after S. aureus inoculation, however levels were increased 8-fold at 24 hours after inoculation compared to wildtype

abnormal circulating tumor necrosis factor level ( J:98124 )

• serum TNF-alpha levels were reduced at 2 hours after S. aureus inoculation, however levels were increased 15-fold at 24 hours after inoculation compared to wildtype

cellular

impaired macrophage phagocytosis ( J:98124 , J:97686 )

• showed a 40% reduction in bacterial phagocytosis by resident peritoneal macrophages (J:98124)

• demonstrated defective apoptotic cell clearance (16% of macrophages phagocytosed compared to more than 25% in wildtype), however did not develop spontaneous autoimmunity (J:97686)

• 38% decrease in percentage of phagocytic cells (J:97686)