Mouse Genome Informatics
hm
    Ercc1tm1Jhjh/Ercc1tm1Jhjh
involves: 129P2/OlaHsd * C57BL/6 * FVB
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• most die by four weeks after birth

growth/size
• mildly retarded
• growth arrests in the second week of life
• mildly retarded
• mildly retarded

embryogenesis
• mildly retarded

cellular
• apoptotic cells are increased in mutant liver compared to age-matched controls
• mutant ES cells and MEFs are mildly, but significantly, hypersensitive to oxidative damage compared to wild-type
• cellular proliferation is decreased compared to age matched controls
• senescent, polyploid hepatocytes are prominent in mutants but not age-matched controls
• MEFS exhibit premature replicative senescence

behavior/neurological
• progressive ataxia

homeostasis/metabolism
• triglyceride accumulation is observed in the liver in young mutants as is seen in older controls

liver/biliary system
• apoptotic cells are increased in mutant liver compared to age-matched controls
• senescent, polyploid hepatocytes are prominent in mutants but not age-matched controls
• triglyceride accumulation is observed in the liver in young mutants as is seen in older controls
• progressive steatosis

muscle

renal/urinary system
• renal insufficiency

skeleton

Mouse Models of Human Disease
OMIM IDRef(s)
Xfe Progeroid Syndrome 610965 J:117488