Phenotypes Associated with This Genotype

Genotype
MGI:5318525

• Allelic Composition: Gfi1^Gen/Gfi1⁺
• Genetic Background: C57BL/6J-Gfi1^Gen

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

immune system

immune system phenotype ( J:182679 )

N • mice exhibit normal NK cell accessory cells

abnormal NK cell differentiation ( J:182679 )

• NK cell maturation is blocked at the double positive stage unlike in wild-type mice

abnormal myelopoiesis ( J:182679 )

• mice exhibit an accumulation of atypical myeloid precursors in the bone marrow compared with wild-type mice

absent neutrophils ( J:182679 )

• in the blood, spleen, bone marrow, liver, lungs and lymph nodes

abnormal NK cell physiology ( J:182679 )

• 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

decreased NK cell degranulation ( J:182679 )

• after stimulation with YAC-1 target cells

hematopoietic system

abnormal NK cell differentiation ( J:182679 )

• NK cell maturation is blocked at the double positive stage unlike in wild-type mice

abnormal myelopoiesis ( J:182679 )

• mice exhibit an accumulation of atypical myeloid precursors in the bone marrow compared with wild-type mice

absent neutrophils ( J:182679 )

• in the blood, spleen, bone marrow, liver, lungs and lymph nodes

abnormal NK cell physiology ( J:182679 )

• 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

decreased NK cell degranulation ( J:182679 )

• after stimulation with YAC-1 target cells

cellular

decreased NK cell degranulation ( J:182679 )

• after stimulation with YAC-1 target cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
severe congenital neutropenia		DOID:0050590	OMIM:PS202700	J:182679