immune system
• thymocyte number is reduced to 10-15% of control mice
|
• a modest decrease in D-J recombination occurs in pro- and pre-B cells
• V to DJ rearrangements involving two frequently used VH families, VHQ52 and VH7183, are substantially reduced but not abrogated
• 21% of T cells contain N nucleotide insertions at the coding joints of greater than 5 basepairs
|
• the number of pro-B cells is almost doubled due to due to a partial block in transition from the pro- to pre- B cell stage
|
• there is decreased frequency of both D to J and V to DJ rearrangements within the TCR-beta locus, yet substantial levels of recombination do occur
• the D-J and D-Jbeta1 coding joints occasionally exhibit large deletions
• in addition, several unusually long P-nucleotide additions occur
|
• double positive thymocytes are reduced by a third due to a partial block in development at the DN3 stage
|
• there is about a 5-fold drop in the number of B cells found in the spleen
|
• there is about an 8-fold drop in pre-B cells found in the bone marrow due to a partial block in transition from the pro- to pre- B cell stage
|
• CD4+ T cell numbers are almost 10-fold less than controls
|
• CD8+ T cell numbers are almost 3-fold less than controls
|
• spleen cellularity is about half that of controls
|
cellular
• mouse embryonic fibroblasts (MEFs) are intermediately sensitive to gamma irradiation with less survival occurring compared to wild-type controls but more survival than MEFs that are homozygote for the Dclre1ctm1Fwa null allele
|
• MEFs have increased levels of chromosomal aberrations 24 h after 200 rads similar to levels observed in MEFs that are homozygote for the Dclre1ctm1Fwa null allele
|
hematopoietic system
• thymocyte number is reduced to 10-15% of control mice
|
• a modest decrease in D-J recombination occurs in pro- and pre-B cells
• V to DJ rearrangements involving two frequently used VH families, VHQ52 and VH7183, are substantially reduced but not abrogated
• 21% of T cells contain N nucleotide insertions at the coding joints of greater than 5 basepairs
|
• the number of pro-B cells is almost doubled due to due to a partial block in transition from the pro- to pre- B cell stage
|
• there is decreased frequency of both D to J and V to DJ rearrangements within the TCR-beta locus, yet substantial levels of recombination do occur
• the D-J and D-Jbeta1 coding joints occasionally exhibit large deletions
• in addition, several unusually long P-nucleotide additions occur
|
• double positive thymocytes are reduced by a third due to a partial block in development at the DN3 stage
|
• there is about a 5-fold drop in the number of B cells found in the spleen
|
• there is about an 8-fold drop in pre-B cells found in the bone marrow due to a partial block in transition from the pro- to pre- B cell stage
|
• CD4+ T cell numbers are almost 10-fold less than controls
|
• CD8+ T cell numbers are almost 3-fold less than controls
|
• spleen cellularity is about half that of controls
|
endocrine/exocrine glands
• thymocyte number is reduced to 10-15% of control mice
|
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:147864 |