Phenotypes Associated with This Genotype

Genotype
MGI:3814863

• Allelic Composition: Trpm7^tm1Clph/Trpm7^tm1.1Clph; Tg(Lck-cre)548Jxm/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

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

immune system

abnormal thymus morphology ( J:140630 )

• 85% penetrance of thymic abnormalities

• CD3+ T cells are found distributed throughout the thymus

abnormal thymus cell ratio ( J:140630 )

• increase in the percentage and number of double negative T cells

• increase in the percentage of cells in the DN3 stage

abnormal thymus corticomedullary boundary morphology ( J:140630 )

• the boundary between the cortical and medullary regions is not well defined

abnormal thymus medulla morphology ( J:140630 )

• progressive loss of thymic medullary cells

decreased thymocyte number ( J:140630 )

• substantial reduction in the number of thymocytes

abnormal T cell differentiation ( J:140630 )

• partial block in the transition from double negative to double positive T cells

• block appears to be at the DN3 to DN4 transition as a significant proportion of cells fail to down regulate CD25

decreased T cell number ( J:140630 )

• slight decrease in the percentage and number of T cells in the spleen and lymph nodes but not in the intestine

abnormal T cell physiology ( J:140630 )

• thymocytes lack Mg2+ inhibitable current

• however, Mg2+ influx into freshly isolated T cells is unaffected

hematopoietic system

abnormal thymus morphology ( J:140630 )

• 85% penetrance of thymic abnormalities

• CD3+ T cells are found distributed throughout the thymus

abnormal thymus cell ratio ( J:140630 )

• increase in the percentage and number of double negative T cells

• increase in the percentage of cells in the DN3 stage

abnormal thymus corticomedullary boundary morphology ( J:140630 )

• the boundary between the cortical and medullary regions is not well defined

abnormal thymus medulla morphology ( J:140630 )

• progressive loss of thymic medullary cells

decreased thymocyte number ( J:140630 )

• substantial reduction in the number of thymocytes

abnormal T cell differentiation ( J:140630 )

• partial block in the transition from double negative to double positive T cells

• block appears to be at the DN3 to DN4 transition as a significant proportion of cells fail to down regulate CD25

decreased T cell number ( J:140630 )

• slight decrease in the percentage and number of T cells in the spleen and lymph nodes but not in the intestine

abnormal T cell physiology ( J:140630 )

• thymocytes lack Mg2+ inhibitable current

• however, Mg2+ influx into freshly isolated T cells is unaffected

endocrine/exocrine glands

abnormal thymus morphology ( J:140630 )

• 85% penetrance of thymic abnormalities

• CD3+ T cells are found distributed throughout the thymus

abnormal thymus cell ratio ( J:140630 )

• increase in the percentage and number of double negative T cells

• increase in the percentage of cells in the DN3 stage

abnormal thymus corticomedullary boundary morphology ( J:140630 )

• the boundary between the cortical and medullary regions is not well defined

abnormal thymus medulla morphology ( J:140630 )

• progressive loss of thymic medullary cells

decreased thymocyte number ( J:140630 )

• substantial reduction in the number of thymocytes