Mouse Genome Informatics
hm
    Rag2tm1Avla/Rag2tm1Avla
involves: 129/Sv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
immune system
• develops in 4% of mice, the most severe phenotype group
• severe lymphocyte infiltration of the lungs and liver occurs
• decreased proliferative response in response to anti-CD3 antibody stimulation
• however, response to phorbol 12-myristate/ionomycin stimulation was normal
• mice challenged with ovalbumin fail to produce ovalbumin-specific antibodies despite low, but detectible, Ig levels
• at 6 to 8 weeks, decrease in lymphoid cells in the thymus, lymph nodes and spleen
• NKT (natural killer T) cells are decreased in the thymus, spleen, mesenteric, inguinal, and cervical lymph nodes
• in thymus, spleen, mesenteric, inguinal and cervical lymph nodes
• development of B lymphocytes is impaired with no immature or mature recirculating B cell detected
• thymocytes do not developed past the DN3 stage
• at 6 to 8 weeks
• at 6 to 8 weeks, severe depletion of white matter and B cells in the spleen
• the CD4+CD8+ double-positive compartment is depleted while the double negative compartment is enriched
• at 6 to 8 weeks, thymi are deficient in Hassall corpuscle-like clusters
• at 6 to 8 weeks, abnormal architecture with a severe depletion in B cells and a lack of B follicles
• mesenteric, inguinal, and cervical lymph nodes are small
• 4% of mice develop skin erythroderma
• mice show increased infiltration of T lymphocytes and eosinophils in the skin

digestive/alimentary system
• at 6 to 8 weeks, mice show increased infiltration of T lymphocytes and eosinophils in the gut especially in the more severe group of mice
• develops in 4% of mice, the most severe phenotype group

growth/size
• develops in 4% of mice

hematopoietic system
• at 6 to 8 weeks, decrease in lymphoid cells in the thymus, lymph nodes and spleen
• NKT (natural killer T) cells are decreased in the thymus, spleen, mesenteric, inguinal, and cervical lymph nodes
• in thymus, spleen, mesenteric, inguinal and cervical lymph nodes
• development of B lymphocytes is impaired with no immature or mature recirculating B cell detected
• thymocytes do not developed past the DN3 stage
• at 6 to 8 weeks
• at 6 to 8 weeks, severe depletion of white matter and B cells in the spleen
• the CD4+CD8+ double-positive compartment is depleted while the double negative compartment is enriched
• at 6 to 8 weeks, thymi are deficient in Hassall corpuscle-like clusters
• severe lymphocyte infiltration of the lungs and liver occurs
• decreased proliferative response in response to anti-CD3 antibody stimulation
• however, response to phorbol 12-myristate/ionomycin stimulation was normal
• mice challenged with ovalbumin fail to produce ovalbumin-specific antibodies despite low, but detectible, Ig levels

integument
• 4% of mice develop skin erythroderma
• mice show increased infiltration of T lymphocytes and eosinophils in the skin
• 60% of mice develop substantial dorsal and facial hair loss
• hair loss is severe in 4% of mice

Mouse Models of Human Disease
OMIM IDRef(s)
Omenn Syndrome 603554 J:122108