Phenotypes Associated with This Genotype

Genotype
MGI:2174910

• Allelic Composition: Rag2^tm1Fwa/Rag2^tm1Fwa
• Genetic Background: involves: 129S/SvEv * MF1

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

growth/size/body

decreased body size ( J:1935 )

• smaller in size than wild-type or heterozygous littermates when maintained in nonbarrier facilities

immune system

thymus hypoplasia ( J:1935 )

• decrease in cellularity of the thymus

abnormal immunoglobulin V(D)J recombination ( J:1935 )

• inability to initiate V(D)J recombination

arrested B cell differentiation ( J:1935 )

• B cell development is arrested at the point at which Ig gene rearrangement is initiated

abnormal T cell receptor V(D)J recombination ( J:1935 )

• inability to initiate V(D)J recombination

decreased double-positive T cell number ( J:1935 )

• absent double positive cells in thymus

arrested T cell differentiation ( J:1935 )

• majority of thymocytes are arrested at an early precursor stage of differentiation

increased granulocyte number ( J:1935 )

• spleens contain increased numbers of granulocytes

absent mature B cells ( J:1935 )

• absent mature B lymphocytes; only very immature lymphoid cells are seen in primary lymphoid organs

increased macrophage cell number ( J:1935 )

• spleens contain increased numbers of macrophages

abnormal effector T cell morphology ( J:1935 )

• absence of mature T cells

decreased CD4-positive, alpha-beta T cell number ( J:1935 )

• absence of single positive cells in the thymus, although spleen contains a small population of CD4+ T cells

decreased CD8-positive, alpha-beta T cell number ( J:1935 )

• absence of single positive cells in the thymus, although spleen contains a small population of CD8+ T cells

abnormal spleen morphology ( J:1935 )

• spleens contain increased numbers of macrophages and granulocytes

spleen hypoplasia ( J:1935 )

• spleens contain 5-10 times fewer cells than control spleens

decreased IgM level ( J:1935 )

• absent IgM

increased natural killer cell mediated cytotoxicity ( J:1935 )

• mutants have a higher level of splenic natural killer activity than controls

lymph node hypoplasia ( J:1935 )

increased susceptibility to infection ( J:1935 )

• mutants develop infections when maintained in nonbarrier facilities for several months

hematopoietic system

thymus hypoplasia ( J:1935 )

• decrease in cellularity of the thymus

abnormal immunoglobulin V(D)J recombination ( J:1935 )

• inability to initiate V(D)J recombination

arrested B cell differentiation ( J:1935 )

• B cell development is arrested at the point at which Ig gene rearrangement is initiated

abnormal T cell receptor V(D)J recombination ( J:1935 )

• inability to initiate V(D)J recombination

decreased double-positive T cell number ( J:1935 )

• absent double positive cells in thymus

arrested T cell differentiation ( J:1935 )

• majority of thymocytes are arrested at an early precursor stage of differentiation

increased granulocyte number ( J:1935 )

• spleens contain increased numbers of granulocytes

absent mature B cells ( J:1935 )

• absent mature B lymphocytes; only very immature lymphoid cells are seen in primary lymphoid organs

increased macrophage cell number ( J:1935 )

• spleens contain increased numbers of macrophages

abnormal effector T cell morphology ( J:1935 )

• absence of mature T cells

decreased CD4-positive, alpha-beta T cell number ( J:1935 )

• absence of single positive cells in the thymus, although spleen contains a small population of CD4+ T cells

decreased CD8-positive, alpha-beta T cell number ( J:1935 )

• absence of single positive cells in the thymus, although spleen contains a small population of CD8+ T cells

abnormal spleen morphology ( J:1935 )

• spleens contain increased numbers of macrophages and granulocytes

spleen hypoplasia ( J:1935 )

• spleens contain 5-10 times fewer cells than control spleens

decreased IgM level ( J:1935 )

• absent IgM

increased natural killer cell mediated cytotoxicity ( J:1935 )

• mutants have a higher level of splenic natural killer activity than controls

endocrine/exocrine glands

thymus hypoplasia ( J:1935 )

• decrease in cellularity of the thymus

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive		DOID:0090013	OMIM:601457	J:1935