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
• 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
• 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
• 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)
• 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
• 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
• 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
• 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

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