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Phenotypes Associated with This Genotype
Genotype
MGI:5318525
Allelic
Composition
Gfi1Gen/Gfi1+
Genetic
Background
C57BL/6J-Gfi1Gen
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gfi1Gen mutation (1 available); any Gfi1 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
N
• mice exhibit normal NK cell accessory cells
• 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
• in the blood, spleen, bone marrow, liver, lungs and lymph nodes
• 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
• 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
• in the blood, spleen, bone marrow, liver, lungs and lymph nodes
• 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 ID Ref(s)
Neutropenia, Severe Congenital, 2, Autosomal Dominant; SCN2 613107 J:182679


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory