Mouse Genome Informatics
hm
    Rag1tm1Jsek/Rag1tm1Jsek
involves: 129S6/SvEvTac
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
immune system
• thymus cellularity is reduced 20- to a 100-fold in mice 5 to 6 weeks of age
• mature B220+IgM+ B cells are absent from the periphery
• a very small number of CD4+ T cells are found in the thymus and lymph nodes
• a very small number of CD8+ T cells are found in the thymus and lymph nodes
• gammadelta T cell numbers are dramatically reduced both in the thymus and in the periphery
• immature B220+IgM+ B cells are absent from the bone marrow
• a very small number of double-positive T cells are observed in the thymus of most mice
• a minority of mice have no detectable double-positive T cells
• there is an increased percentage of thymocytes at the DN3 (CD44-CD25+) stage
• IgH-D to IgH-J rearrangements are severely impaired in sorted pro-B- and pre-B-cell populations
• pro-B cell numbers are increased in the bone marrow due to block in B cell development
• B cell development is completely arrested at the B220+CD43+ stage
• interchromosomal trans-rearrangement between Tcrg-variable segments and Tcrb-joining segments are detected in thymocytes
• Dbeta to Jbeta rearrangements are severely impaired in thymocytes
• vast majority of thymocytes arrest development at the DN3 (CD44-CD25+) stage
• majority of mice have substantially lower levels of IgE
• however, almost a third have mice have IgE levels that are 5- to 10- fold higher than wild-type controls

cellular
• interchromosomal trans-rearrangement between Tcrg-variable segments and Tcrb-joining segments are detected in thymocytes

hematopoietic system
• thymus cellularity is reduced 20- to a 100-fold in mice 5 to 6 weeks of age
• mature B220+IgM+ B cells are absent from the periphery
• a very small number of CD4+ T cells are found in the thymus and lymph nodes
• a very small number of CD8+ T cells are found in the thymus and lymph nodes
• gammadelta T cell numbers are dramatically reduced both in the thymus and in the periphery
• immature B220+IgM+ B cells are absent from the bone marrow
• a very small number of double-positive T cells are observed in the thymus of most mice
• a minority of mice have no detectable double-positive T cells
• there is an increased percentage of thymocytes at the DN3 (CD44-CD25+) stage
• IgH-D to IgH-J rearrangements are severely impaired in sorted pro-B- and pre-B-cell populations
• pro-B cell numbers are increased in the bone marrow due to block in B cell development
• B cell development is completely arrested at the B220+CD43+ stage
• interchromosomal trans-rearrangement between Tcrg-variable segments and Tcrb-joining segments are detected in thymocytes
• Dbeta to Jbeta rearrangements are severely impaired in thymocytes
• vast majority of thymocytes arrest development at the DN3 (CD44-CD25+) stage
• majority of mice have substantially lower levels of IgE
• however, almost a third have mice have IgE levels that are 5- to 10- fold higher than wild-type controls

endocrine/exocrine glands
• thymus cellularity is reduced 20- to a 100-fold in mice 5 to 6 weeks of age

Mouse Models of Human Disease
OMIM IDRef(s)
NOT Omenn Syndrome 603554 J:146912