About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:3804449
Allelic
Composition
Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc1tm1Jhjh mutation (0 available); any Ercc1 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most die by four weeks after birth

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

embryo
• 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 ID Ref(s)
Xfe Progeroid Syndrome; XFEPS 610965 J:117488


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/22/2016
MGI 6.06
The Jackson Laboratory