Phenotypes Associated with This Genotype

Genotype
MGI:3829970

• Allelic Composition: Cpa3^tm3(icre)Hrr/Cpa3⁺; Notch1^tm1Agt/Notch1^tm1Agt
• Genetic Background: involves: 129 * C57BL/6

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

immune system

thymus hypoplasia ( J:143731 )

• thymus cellularity is reduced 65% compared to age-matched controls

abnormal T cell receptor beta chain V(D)J recombination ( J:143731 )

• some CD19^lo thymic B cells have recombined Tcrb Dbeta1-Jbeta1 gene segments

decreased double-negative T cell number ( J:143731 )

• the percentage of thymocytes in the DN stages of T cell development are reduced compared to controls

• the percentage of thymocytes in the DN1 stage is reduced by a third with most of the reduction occurring at the DN1a and DN1b sub-stages

• the percentage of thymocytes in the DN2-DN3 stages are reduced by about 50% compared to controls

decreased double-positive T cell number ( J:143731 )

• double positive thymocytes make up just 65% of total thymocyte population compared to 80% in controls

increased single-positive T cell number ( J:143731 )

• percentages of single-positive cells are increased in the thymus compared to controls

abnormal B cell morphology ( J:143731 )

• 10-fold more B cells are found in the thymus compared to controls

• these B cells consist of a major CD19^hi population and a minor CD19^lo population with similar populations found in the bone marrow

• the CD19^hi B cell population expresses cell surface markers similar to mature B2 B cells

• the CD19^loB cell population have cell surface markers of pro- and pre- B cells

• single cell genotyping reveals about 94% of the CD19^lo population has cre-mediated deletion of the floxed allele while only 26% of the CD19^hi allele had the flox allele deleted

abnormal B cell differentiation ( J:143731 )

• the presence of recombined Tcrb gene segments in the abnormal CD19^lo thymic B cells population suggests that the B cells differentiate from a DN1 T cell precursor

hematopoietic system

thymus hypoplasia ( J:143731 )

• thymus cellularity is reduced 65% compared to age-matched controls

abnormal T cell receptor beta chain V(D)J recombination ( J:143731 )

• some CD19^lo thymic B cells have recombined Tcrb Dbeta1-Jbeta1 gene segments

decreased double-negative T cell number ( J:143731 )

• the percentage of thymocytes in the DN stages of T cell development are reduced compared to controls

• the percentage of thymocytes in the DN1 stage is reduced by a third with most of the reduction occurring at the DN1a and DN1b sub-stages

• the percentage of thymocytes in the DN2-DN3 stages are reduced by about 50% compared to controls

decreased double-positive T cell number ( J:143731 )

• double positive thymocytes make up just 65% of total thymocyte population compared to 80% in controls

increased single-positive T cell number ( J:143731 )

• percentages of single-positive cells are increased in the thymus compared to controls

abnormal B cell morphology ( J:143731 )

• 10-fold more B cells are found in the thymus compared to controls

• these B cells consist of a major CD19^hi population and a minor CD19^lo population with similar populations found in the bone marrow

• the CD19^hi B cell population expresses cell surface markers similar to mature B2 B cells

• the CD19^loB cell population have cell surface markers of pro- and pre- B cells

• single cell genotyping reveals about 94% of the CD19^lo population has cre-mediated deletion of the floxed allele while only 26% of the CD19^hi allele had the flox allele deleted

abnormal B cell differentiation ( J:143731 )

• the presence of recombined Tcrb gene segments in the abnormal CD19^lo thymic B cells population suggests that the B cells differentiate from a DN1 T cell precursor

endocrine/exocrine glands

thymus hypoplasia ( J:143731 )

• thymus cellularity is reduced 65% compared to age-matched controls