Mouse Genome Informatics
hm
    Rag2tm1Fwa/Rag2tm1Fwa
involves: 129S/SvEv * MF1
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
growth/size/body
• smaller in size than wild-type or heterozygous littermates when maintained in nonbarrier facilities

immune system
• decrease in cellularity of the thymus
• spleens contain increased numbers of granulocytes
• absent mature B lymphocytes; only very immature lymphoid cells are seen in primary lymphoid organs
• absent double positive cells in thymus
• spleens contain increased numbers of macrophages
• inability to initiate V(D)J recombination
• B cell development is arrested at the point at which Ig gene rearrangement is initiated
• inability to initiate V(D)J recombination
• majority of thymocytes are arrested at an early precursor stage of differentiation
• absence of mature T cells
• absence of single positive cells in the thymus, although spleen contains a small population of CD4+ T cells
• absence of single positive cells in the thymus, although spleen contains a small population of CD8+ T cells
• spleens contain increased numbers of macrophages and granulocytes
• spleens contain 5-10 times fewer cells than control spleens
• absent IgM
• mutants have a higher level of splenic natural killer activity than controls
• mutants develop infections when maintained in nonbarrier facilities for several months

hematopoietic system
• decrease in cellularity of the thymus
• spleens contain increased numbers of granulocytes
• absent mature B lymphocytes; only very immature lymphoid cells are seen in primary lymphoid organs
• absent double positive cells in thymus
• spleens contain increased numbers of macrophages
• inability to initiate V(D)J recombination
• B cell development is arrested at the point at which Ig gene rearrangement is initiated
• inability to initiate V(D)J recombination
• majority of thymocytes are arrested at an early precursor stage of differentiation
• absence of mature T cells
• absence of single positive cells in the thymus, although spleen contains a small population of CD4+ T cells
• absence of single positive cells in the thymus, although spleen contains a small population of CD8+ T cells
• spleens contain increased numbers of macrophages and granulocytes
• spleens contain 5-10 times fewer cells than control spleens
• absent IgM
• mutants have a higher level of splenic natural killer activity than controls

endocrine/exocrine glands
• decrease in cellularity of the thymus

Mouse Models of Human Disease
OMIM IDRef(s)
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive 601457 J:1935