Phenotypes Associated with This Genotype

Genotype
MGI:3840832

• Allelic Composition: Rag1^tm1Jsek/Rag1^tm1Jsek
• Genetic Background: involves: 129S6/SvEvTac

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

immune system

thymus hypoplasia ( J:146912 )

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

abnormal lymphopoiesis ( J:146912 )

absent immature B cells ( J:146912 )

• immature B220⁺IgM⁺ B cells are absent from the bone marrow

abnormal immunoglobulin heavy chain V(D)J recombination ( J:146912 )

• IgH-D to IgH-J rearrangements are severely impaired in sorted pro-B- and pre-B-cell populations

increased pro-B cell number ( J:146912 )

• pro-B cell numbers are increased in the bone marrow due to block in B cell development

arrested B cell differentiation ( J:146912 )

• B cell development is completely arrested at the B220⁺CD43⁺ stage

abnormal T cell receptor V(D)J recombination ( J:146912 )

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

abnormal T cell receptor beta chain V(D)J recombination ( J:146912 )

• Dbeta to Jbeta rearrangements are severely impaired in thymocytes

increased double-negative T cell number ( J:146912 )

• there is an increased percentage of thymocytes at the DN3 (CD44^-CD25⁺) stage

decreased double-positive T cell number ( J:146912 )

• 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

arrested T cell differentiation ( J:146912 )

• vast majority of thymocytes arrest development at the DN3 (CD44^-CD25⁺) stage

absent mature B cells ( J:146912 )

• mature B220⁺IgM⁺ B cells are absent from the periphery

decreased CD4-positive, alpha-beta T cell number ( J:146912 )

• a very small number of CD4⁺ T cells are found in the thymus and lymph nodes

decreased CD8-positive, alpha-beta T cell number ( J:146912 )

• a very small number of CD8⁺ T cells are found in the thymus and lymph nodes

decreased gamma-delta T cell number ( J:146912 )

• gammadelta T cell numbers are dramatically reduced both in the thymus and in the periphery

abnormal immunoglobulin level ( J:146912 )

• 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

spontaneous chromosome breakage ( J:146912 )

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

hematopoietic system

thymus hypoplasia ( J:146912 )

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

abnormal lymphopoiesis ( J:146912 )

absent immature B cells ( J:146912 )

• immature B220⁺IgM⁺ B cells are absent from the bone marrow

abnormal immunoglobulin heavy chain V(D)J recombination ( J:146912 )

• IgH-D to IgH-J rearrangements are severely impaired in sorted pro-B- and pre-B-cell populations

increased pro-B cell number ( J:146912 )

• pro-B cell numbers are increased in the bone marrow due to block in B cell development

arrested B cell differentiation ( J:146912 )

• B cell development is completely arrested at the B220⁺CD43⁺ stage

abnormal T cell receptor V(D)J recombination ( J:146912 )

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

abnormal T cell receptor beta chain V(D)J recombination ( J:146912 )

• Dbeta to Jbeta rearrangements are severely impaired in thymocytes

increased double-negative T cell number ( J:146912 )

• there is an increased percentage of thymocytes at the DN3 (CD44^-CD25⁺) stage

decreased double-positive T cell number ( J:146912 )

• 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

arrested T cell differentiation ( J:146912 )

• vast majority of thymocytes arrest development at the DN3 (CD44^-CD25⁺) stage

absent mature B cells ( J:146912 )

• mature B220⁺IgM⁺ B cells are absent from the periphery

decreased CD4-positive, alpha-beta T cell number ( J:146912 )

• a very small number of CD4⁺ T cells are found in the thymus and lymph nodes

decreased CD8-positive, alpha-beta T cell number ( J:146912 )

• a very small number of CD8⁺ T cells are found in the thymus and lymph nodes

decreased gamma-delta T cell number ( J:146912 )

• gammadelta T cell numbers are dramatically reduced both in the thymus and in the periphery

abnormal immunoglobulin level ( J:146912 )

• 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 hypoplasia ( J:146912 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	Omenn syndrome	DOID:0060010	OMIM:603554	J:146912