Phenotypes associated with this allele

• Allele Symbol: Rac2^em1Shl
• Allele Name: endonuclease-mediated mutation 1, Steven M Holland
• Allele ID: MGI:6473850
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Rac2^em1Shl/Rac2^+	involves: C57BL/6	MGI:6473858

Genotype
MGI:6473858

ht1

• Allelic Composition: Rac2^em1Shl/Rac2⁺
• Genetic Background: involves: C57BL/6

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

hematopoietic system

abnormal neutrophil morphology ( J:276213 )

• bone marrow neutrophils exhibit elevated F-actin

increased neutrophil cell number ( J:276213 )

• increase in Mac1+ cells in the spleen, indicative of neutrophilia

decreased leukocyte cell number ( J:276213 )

• mice exhibit peripheral lymphopenia

decreased lymphocyte cell number ( J:276213 )

decreased T cell number ( J:276213 )

• more than 20-fold decrease in CD3+ T cells in the circulation, reflecting decreases of both CD4+ and CD8+ cells

• however, splenic B cells are not decreased

decreased alpha-beta T cell number ( J:276213 )

• T-cell receptor alpha-beta+ cells are lower in the spleen

• however, T-cell receptor gamma-delta+ cell numbers are preserved

• both single positive T-cell subsets ae decreased in the spleen, with CD8+ T cells showing a greater decrease than CD4+ T cells

decreased CD4-positive, alpha-beta T cell number ( J:276213 )

decreased CD8-positive, alpha-beta T cell number ( J:276213 )

immune system

abnormal neutrophil morphology ( J:276213 )

• bone marrow neutrophils exhibit elevated F-actin

increased neutrophil cell number ( J:276213 )

• increase in Mac1+ cells in the spleen, indicative of neutrophilia

decreased leukocyte cell number ( J:276213 )

• mice exhibit peripheral lymphopenia

decreased lymphocyte cell number ( J:276213 )

decreased T cell number ( J:276213 )

• more than 20-fold decrease in CD3+ T cells in the circulation, reflecting decreases of both CD4+ and CD8+ cells

• however, splenic B cells are not decreased

decreased alpha-beta T cell number ( J:276213 )

• T-cell receptor alpha-beta+ cells are lower in the spleen

• however, T-cell receptor gamma-delta+ cell numbers are preserved

• both single positive T-cell subsets ae decreased in the spleen, with CD8+ T cells showing a greater decrease than CD4+ T cells

decreased CD4-positive, alpha-beta T cell number ( J:276213 )

decreased CD8-positive, alpha-beta T cell number ( J:276213 )

cellular

oxidative stress ( J:276213 )

• increase in superoxide production in response to the chemotactic peptide fMLF in marrow cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia		DOID:0112061	OMIM:618986	J:276213