Mouse Genome Informatics
hm
    Prkdcscid/Prkdcscid
CB17-Prkdcscid
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• lifespan is shortened in conventional housing, however, in an SPF environment homozygotes can live to more than one year

immune system
N
• in contrast to homozygotes on the NOD background, spleen cell suspensions from homozygous CB17 mice exhibit NK cell activity (J:22026)
• in mice injected i.p. with cells from submandibular gland tissue of diseased Faslpr mice, inflammatory lesions are observed in salivary and lacrimal glands
• infiltrating cells are CD4+ and Vbeta8+ with a minority being CD4+ and Vbeta6+
• mice injected with cells pretreated with anti-CD4 or anti-Vbeta8 do not develop inflammatory lesions or only minor lesions are seen in parotid, submandibular, sublingual and lacrimal glands in majority of transplanted mice
• homozygotes are leukopenic
• B cells cannot be detected in the spleen with Ig or Lyb-8 (Cd22) markers
• pre-B cells cannot be detected in the bone marrow
• spleen cells do not proliferate in response to LPS
• splenic T cells do not proliferate in response to concanavalin A or to a one-way mixed lymphocyte reaction
• splenic follicles are devoid of lymphocytic cells
• the remaining thymocytes that express the Thy1 marker are larger than normal thymocytes
• lymphocytic cortex is not evident in thymus
• mucinous cysts are occasionally found
• 1/10th to 1/100th normal size
• PeyerŐs patches are rarely visible
• lymph nodes have only a few lymphoid cells, however, sinuses are well-formed and contain macrophages
• lymphid organs are 1/10th or less of normal size
• lymph organs consist mostly of supportive tissue with varying numbers of fibroblasts, macrophages and histiocytes
• mice are unable to produce specific antibody to two T-independent antigens
• 31/206 mice tested have low levels of serum immunoglobulin, all 31 have an IgG isotype and of these, 17 also have an IgM isotype (J:6958)
• the remaining 175/206 mice do not have detectable serum immunoglobulin (J:6958)
• only 1/11 homozygotescan produce greater than 1 ug/ml serum Ig at up to 100 days of age, however, 21/29 homozygotes produce greater than 1 ug/ml between 100-200 days of age (J:22026)
• hypogammaglobulinemic
• following injection of human T lymphoblastoid cells, 40% of nucleated spleen cells are of human origin by 4 weeks post injection
• homozygotes do not reject full thickness skin allografts (J:6958)
• 1/5 homozygotes (5-6 weeks of age) reject orthotopic tail skin allografts throughout a 3 month observation period (J:22026)

hematopoietic system
N
• in contrast to homozygotes on the NOD background, homozygous CB17 mice exhibit normal erythrocyte mean cell volumes (J:22026)
• homozygotes are leukopenic
• B cells cannot be detected in the spleen with Ig or Lyb-8 (Cd22) markers
• pre-B cells cannot be detected in the bone marrow
• spleen cells do not proliferate in response to LPS
• splenic T cells do not proliferate in response to concanavalin A or to a one-way mixed lymphocyte reaction
• splenic follicles are devoid of lymphocytic cells
• the remaining thymocytes that express the Thy1 marker are larger than normal thymocytes
• lymphocytic cortex is not evident in thymus
• mucinous cysts are occasionally found
• 1/10th to 1/100th normal size
• 31/206 mice tested have low levels of serum immunoglobulin, all 31 have an IgG isotype and of these, 17 also have an IgM isotype (J:6958)
• the remaining 175/206 mice do not have detectable serum immunoglobulin (J:6958)
• only 1/11 homozygotescan produce greater than 1 ug/ml serum Ig at up to 100 days of age, however, 21/29 homozygotes produce greater than 1 ug/ml between 100-200 days of age (J:22026)
• hypogammaglobulinemic

tumorigenesis
• spontaneous T cell lymphomas are found in greater than 10% of homozygotes at 5-9 months of age
• tumors arise in the thymus and are highly invasive and are transplantable

digestive/alimentary system
• in mice injected i.p. with cells from submandibular gland tissue of diseased Faslpr mice, inflammatory lesions are observed in salivary and lacrimal glands
• infiltrating cells are CD4+ and Vbeta8+ with a minority being CD4+ and Vbeta6+
• mice injected with cells pretreated with anti-CD4 or anti-Vbeta8 do not develop inflammatory lesions or only minor lesions are seen in parotid, submandibular, sublingual and lacrimal glands in majority of transplanted mice

endocrine/exocrine glands
• in mice injected i.p. with cells from submandibular gland tissue of diseased Faslpr mice, inflammatory lesions are observed in salivary and lacrimal glands
• infiltrating cells are CD4+ and Vbeta8+ with a minority being CD4+ and Vbeta6+
• mice injected with cells pretreated with anti-CD4 or anti-Vbeta8 do not develop inflammatory lesions or only minor lesions are seen in parotid, submandibular, sublingual and lacrimal glands in majority of transplanted mice

Mouse Models of Human Disease
OMIM IDRef(s)
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive 601457 J:6958