Mouse Genome Informatics
ht
    Dnmt3btm6Enl/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
• almost no (only 1) homozygous mice survive to weaning

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

craniofacial
• skeletons of newborn mutants show similar defect to that seen in adult Dnmt3btm7Enl mutants

skeleton
• skeletons of newborn mutants show similar defect to that seen in adult Dnmt3btm7Enl mutants

immune system
• at P1, many thymocytes are dead or dying

hematopoietic system
• at P1, many thymocytes are dead or dying

cellular
• at P1, many thymocytes are dead or dying

endocrine/exocrine glands
• at P1, many thymocytes are dead or dying

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