Mouse Genome Informatics
hm
    Dnmt3btm6Enl/Dnmt3btm6Enl
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

craniofacial
• enlarged front fontanelle is present in mutants
• calvarium of adult homozygotes has wider frontal bones than wild-type littermates resulting in a wider distance between the eyes
• nasal bone of adults is shorter than in wild-type

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

hematopoietic system
• at P1, many thymocytes are dead or dying
• thymuses of P1 mutants are much smaller than those of controls

immune system
• at P1, many thymocytes are dead or dying
• thymuses of P1 mutants are much smaller than those of controls

skeleton
• enlarged front fontanelle is present in mutants
• calvarium of adult homozygotes has wider frontal bones than wild-type littermates resulting in a wider distance between the eyes
• nasal bone of adults is shorter than in wild-type

vision/eye
• mutants display a wider distance between the eyes

cellular
• 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