Mouse Genome Informatics
hm
    Dclre1ctm1Jsek/Dclre1ctm1Jsek
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
immune system
• thymocyte number is reduced to 10-15% of control mice
• 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
• double positive thymocytes are reduced by a third due to a partial block in development at the DN3 stage
• 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
• 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
• 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
• double positive thymocytes are reduced by a third due to a partial block in development at the DN3 stage
• 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
• 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
OMIM IDRef(s)
Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation 602450 J:147864