Phenotypes Associated with This Genotype

Genotype
MGI:3818534

• Allelic Composition: Coro1a^ptcd/Coro1a^tm1Achn
• Genetic Background: B6.Cg-Coro1a^ptcd Coro1a^tm1Achn

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

immune system

increased thymocyte number ( J:141431 )

• the percentage of mature (CD69^loCD62L^hi) single-positive thymocytes is increased in these mice

abnormal effector T cell morphology ( J:141431 )

• migrating T cells have irregularly shaped protrusions that are often larger in size than controls

decreased CD4-positive, alpha-beta T cell number ( J:141431 )

• CD4⁺ T cell numbers in the periphery are significantly decreased around 5-fold

decreased CD8-positive, alpha-beta T cell number ( J:141431 )

• CD8⁺ T cell numbers in the periphery are significantly decreased

abnormal T cell physiology ( J:141431 )

• T cells have defects in migrating on ICAM-coated surfaces

abnormal T cell activation ( J:141431 )

• upon CD3 activation, T cells flux less Ca²⁺ than wild-type controls

• however, similar Ca²⁺ flux results as controls are observed when CD4 stimulation is included

hematopoietic system

increased thymocyte number ( J:141431 )

• the percentage of mature (CD69^loCD62L^hi) single-positive thymocytes is increased in these mice

abnormal effector T cell morphology ( J:141431 )

• migrating T cells have irregularly shaped protrusions that are often larger in size than controls

decreased CD4-positive, alpha-beta T cell number ( J:141431 )

• CD4⁺ T cell numbers in the periphery are significantly decreased around 5-fold

decreased CD8-positive, alpha-beta T cell number ( J:141431 )

• CD8⁺ T cell numbers in the periphery are significantly decreased

abnormal T cell physiology ( J:141431 )

• T cells have defects in migrating on ICAM-coated surfaces

abnormal T cell activation ( J:141431 )

• upon CD3 activation, T cells flux less Ca²⁺ than wild-type controls

• however, similar Ca²⁺ flux results as controls are observed when CD4 stimulation is included

endocrine/exocrine glands

increased thymocyte number ( J:141431 )

• the percentage of mature (CD69^loCD62L^hi) single-positive thymocytes is increased in these mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive		DOID:0090014	OMIM:608971	J:141431