mortality/aging
• almost no (only 1) homozygous mice survive to weaning
|
• normal numbers of pups are born but most die within 24 hours
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growth/size/body
• skeletons of newborn mutants show similar defect to that seen in adult Dnmt3btm7Enl mutants
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• at birth, mutants are less than 2/3 the weight of normal littermates
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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
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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
|
respiratory system
• skeletons of newborn mutants show similar defect to that seen in adult Dnmt3btm7Enl mutants
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
immunodeficiency-centromeric instability-facial anomalies syndrome 1 | DOID:0090008 |
OMIM:242860 |
J:106540 |