Mouse Genome Informatics
ht
    Dnmt3btm1Enl/Dnmt3btm7Enl
involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• normal numbers of pups are born but most die within 24 hours

immune system
• majority of P1 mutant thymocytes are dead or dying
• numbers of CD4+CD8+ cells are reduced in mutants compared to wild-type; this is similar in all mutant phenotypes (data not shown)
• total number of thymocytes is reduced ~10 fold compared to wild-type
• numbers of CD4-CD8- cells are relatively increased compared to wild-type
• thymuses of P1 mutants are much smaller than those of controls

growth/size
• at birth, mutants are less than 2/3 the weight of normal littermates

hematopoietic system
• majority of P1 mutant thymocytes are dead or dying
• numbers of CD4+CD8+ cells are reduced in mutants compared to wild-type; this is similar in all mutant phenotypes (data not shown)
• total number of thymocytes is reduced ~10 fold compared to wild-type
• numbers of CD4-CD8- cells are relatively increased compared to wild-type
• thymuses of P1 mutants are much smaller than those of controls

cellular
• majority of P1 mutant thymocytes are dead or dying

Mouse Models of Human Disease
OMIM IDRef(s)
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1; ICF1 242860 J:106540