Phenotypes Associated with This Genotype

Genotype
MGI:3804449

• Allelic Composition: Ercc1^tm1Jhjh/Ercc1^tm1Jhjh
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

postnatal lethality, incomplete penetrance ( J:117488 )

• most die by four weeks after birth

premature aging ( J:117488 )

growth/size/body

embryonic growth retardation ( J:117488 )

• mildly retarded

abnormal postnatal growth ( J:117488 )

• growth arrests in the second week of life

postnatal growth retardation ( J:117488 )

• mildly retarded

fetal growth retardation ( J:117488 )

• mildly retarded

embryo

embryonic growth retardation ( J:117488 )

• mildly retarded

cellular

increased cellular sensitivity to oxidative stress ( J:117488 )

• mutant ES cells and MEFs are mildly, but significantly, hypersensitive to oxidative damage compared to wild-type

increased hepatocyte apoptosis ( J:117488 )

• apoptotic cells are increased in mutant liver compared to age-matched controls

decreased cell proliferation ( J:117488 )

• cellular proliferation is decreased compared to age matched controls

decreased hepatocyte proliferation ( J:117488 )

• senescent, polyploid hepatocytes are prominent in mutants but not age-matched controls

early cellular replicative senescence ( J:117488 )

• MEFS exhibit premature replicative senescence

abnormal DNA repair ( J:117488 )

behavior/neurological

dystonia ( J:117488 )

ataxia ( J:117488 )

• progressive ataxia

homeostasis/metabolism

abnormal DNA repair ( J:117488 )

decreased circulating glucose level ( J:117488 )

decreased circulating insulin level ( J:117488 )

decreased circulating insulin-like growth factor I level ( J:117488 )

increased liver triglyceride level ( J:117488 )

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

acidosis ( J:117488 )

increased urine protein level ( J:117488 )

liver/biliary system

increased hepatocyte apoptosis ( J:117488 )

• apoptotic cells are increased in mutant liver compared to age-matched controls

decreased hepatocyte proliferation ( J:117488 )

• senescent, polyploid hepatocytes are prominent in mutants but not age-matched controls

increased liver triglyceride level ( J:117488 )

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

hepatic steatosis ( J:117488 )

• progressive steatosis

muscle

dystonia ( J:117488 )

decreased skeletal muscle mass ( J:117488 )

• sarcopenia

renal/urinary system

increased urine protein level ( J:117488 )

abnormal kidney physiology ( J:117488 )

• renal insufficiency

skeleton

kyphosis ( J:117488 )

decreased bone mineral density ( J:117488 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
XFE progeroid syndrome		DOID:0060590	OMIM:610965	J:117488