Mouse Genome Informatics
ht
    Gfi1Gen/Gfi1+
C57BL/6J-Gfi1Gen
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
immune system
N
• mice exhibit normal NK cell accessory cells (J:182679)
• in the blood, spleen, bone marrow, liver, lungs and lymph nodes
• NK cell maturation is blocked at the double positive stage unlike in wild-type mice
• mice exhibit an accumulation of atypical myeloid precursors in the bone marrow compared with wild-type mice
• hyporesponsive towards YCA-1 target cells in vitro and MHC-I-deficient splenocytes in vivo
• hyporesponsive towards stimulation of NK1.1-, NKp46- or NKG2D- and Ly49D-activatng receptors
• transplant experiments confirm that NK cell hyporeactivity involves a cell-extrinsic factor
• NK cells exhibit higher rates of proliferation and poorer survival compared with wild-type cells
• however, responsiveness to PMA and ionomycin stimulation is normal and NK cells regain full reactivity in a wild-type environment
• after stimulation with YAC-1 target cells

hematopoietic system
• in the blood, spleen, bone marrow, liver, lungs and lymph nodes
• NK cell maturation is blocked at the double positive stage unlike in wild-type mice
• mice exhibit an accumulation of atypical myeloid precursors in the bone marrow compared with wild-type mice
• hyporesponsive towards YCA-1 target cells in vitro and MHC-I-deficient splenocytes in vivo
• hyporesponsive towards stimulation of NK1.1-, NKp46- or NKG2D- and Ly49D-activatng receptors
• transplant experiments confirm that NK cell hyporeactivity involves a cell-extrinsic factor
• NK cells exhibit higher rates of proliferation and poorer survival compared with wild-type cells
• however, responsiveness to PMA and ionomycin stimulation is normal and NK cells regain full reactivity in a wild-type environment
• after stimulation with YAC-1 target cells

Mouse Models of Human Disease
OMIM IDRef(s)
Neutropenia, Severe Congenital, 2, Autosomal Dominant; SCN2 613107 J:182679