Phenotypes associated with this allele

• Allele Symbol: Dclre1c^tm2Mcow
• Allele Name: targeted mutation 2, Morton J Cowan
• Allele ID: MGI:3574021
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dclre1c^tm2Mcow/Dclre1c^tm2Mcow	involves: 129/Sv * C57BL/6	MGI:3576477

Genotype
MGI:3576477

hm1

• Allelic Composition: Dclre1c^tm2Mcow/Dclre1c^tm2Mcow
• Genetic Background: involves: 129/Sv * C57BL/6

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

immune system

absent thymus cortex ( J:96535 )

• thymus showed absence of the lymphocytic cortex, and predominance of connective tissue with scattered lymphoid cells

decreased thymus weight ( J:96535 )

• thymus weighted approximately 20% of wildtype and was poorly developed at 2 and 4-5 weeks of age

arrested B cell differentiation ( J:96535 )

• arrest of B cell development at an early progenitor stage

arrested T cell differentiation ( J:96535 )

• more than 90% of thymocytes were arrested at the CD4^-CD8^- stage, compared to 5-10% arrested in wildtype, there were at least 20 times more CD4^-CD8^-CD25⁺ cells and showed near absence of CD8⁺CD3⁺ and CD4⁺CD3⁺ mature single-positive cells in 2 week old mutants

decreased lymphocyte cell number ( J:96535 )

• lymphoid depletion

decreased thymocyte number ( J:96535 )

• thymoctye counts were 0.7-4% of that observed in wildtype

small spleen ( J:96535 )

• spleen was smaller and poorly developed at 2 and 4-5 weeks of age

abnormal spleen B cell follicle morphology ( J:96535 )

• spleens showed reduction in fully developed lymphoid follicles, in which majority of lymphoid cells showed larger nuclei with less dense chromatin and prominent nucleoli

abnormal leukocyte physiology ( J:96535 )

• impaired coding joint rearrangement (10 fold decrease in D_H-J_H2 and 100 fold decrease in V_H7183-J_H2 rearrangement and 10-100 fold reduction in TCRbeta and Ddelta2-Jdelta1 coding joint formation) while retaining intact signal ends and close to normal signal joint formation

decreased B cell proliferation ( J:96535 )

• B cell proliferation to LPS was 13.5% of that in wildtype

decreased T cell proliferation ( J:96535 )

• T cell proliferation to Con A and anti-CD3 was reduced to 16.5 and 18.7% of that seen in wildtype

abnormal lymph node morphology ( J:96535 )

• lymph nodes were severely depleted of mature lymphocytes, with complete absence of lymphoid follicles

small lymph nodes ( J:96535 )

• lymph nodes were smaller and poorly developed at 2 and 4-5 weeks of age

hematopoietic system

absent thymus cortex ( J:96535 )

• thymus showed absence of the lymphocytic cortex, and predominance of connective tissue with scattered lymphoid cells

decreased thymus weight ( J:96535 )

• thymus weighted approximately 20% of wildtype and was poorly developed at 2 and 4-5 weeks of age

arrested B cell differentiation ( J:96535 )

• arrest of B cell development at an early progenitor stage

arrested T cell differentiation ( J:96535 )

• more than 90% of thymocytes were arrested at the CD4^-CD8^- stage, compared to 5-10% arrested in wildtype, there were at least 20 times more CD4^-CD8^-CD25⁺ cells and showed near absence of CD8⁺CD3⁺ and CD4⁺CD3⁺ mature single-positive cells in 2 week old mutants

decreased lymphocyte cell number ( J:96535 )

• lymphoid depletion

decreased thymocyte number ( J:96535 )

• thymoctye counts were 0.7-4% of that observed in wildtype

small spleen ( J:96535 )

• spleen was smaller and poorly developed at 2 and 4-5 weeks of age

abnormal spleen B cell follicle morphology ( J:96535 )

• spleens showed reduction in fully developed lymphoid follicles, in which majority of lymphoid cells showed larger nuclei with less dense chromatin and prominent nucleoli

abnormal leukocyte physiology ( J:96535 )

• impaired coding joint rearrangement (10 fold decrease in D_H-J_H2 and 100 fold decrease in V_H7183-J_H2 rearrangement and 10-100 fold reduction in TCRbeta and Ddelta2-Jdelta1 coding joint formation) while retaining intact signal ends and close to normal signal joint formation

decreased B cell proliferation ( J:96535 )

• B cell proliferation to LPS was 13.5% of that in wildtype

decreased T cell proliferation ( J:96535 )

• T cell proliferation to Con A and anti-CD3 was reduced to 16.5 and 18.7% of that seen in wildtype

cellular

abnormal cell physiology ( J:96535 )

• coding joint formation was undetectable in MEFs in an extrachromosomal V(D)J recombination assay

increased cellular sensitivity to ionizing radiation ( J:96535 )

• MEFs exhibit elevated sensitivity to ionizing radiation

decreased B cell proliferation ( J:96535 )

• B cell proliferation to LPS was 13.5% of that in wildtype

decreased T cell proliferation ( J:96535 )

• T cell proliferation to Con A and anti-CD3 was reduced to 16.5 and 18.7% of that seen in wildtype

endocrine/exocrine glands

absent thymus cortex ( J:96535 )

• thymus showed absence of the lymphocytic cortex, and predominance of connective tissue with scattered lymphoid cells

decreased thymus weight ( J:96535 )

• thymus weighted approximately 20% of wildtype and was poorly developed at 2 and 4-5 weeks of age

decreased thymocyte number ( J:96535 )

• thymoctye counts were 0.7-4% of that observed in wildtype

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
severe combined immunodeficiency with sensitivity to ionizing radiation		DOID:0090012	OMIM:602450	J:96535