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Phenotypes Associated with This Genotype
Genotype
MGI:3836474
Allelic
Composition
Ercc3tm2Jhjh/Ercc3tm2Jhjh
Xpatm1Hvs/Xpatm1Hvs
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc3tm2Jhjh mutation (0 available); any Ercc3 mutation (32 available)
Xpatm1Hvs mutation (3 available); any Xpa mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most severely affected mice die between 3 and 4 weeks of age
• some mice exhibit symptoms of premature aging including progressive cachexia, early cessation of growth, neurological abnormalities, and severely reduced life span
• however, mice do not exhibit osteoporosis or increased incidence of spontaneous tumors

reproductive system
• prematurely at 1.5 years of age

behavior/neurological
• occasional in 30% of mice at 2 months of age
• occasional in 30% of mice at 2 months of age
• in the last week of live for mice that die prematurely
• at 2 months of age, impaired hindlimb coordination is occasional observed in 30% of mice unlike in wild-type mice
• mild gait abnormalities are observed in mice from P12 to 2 months of age and again in ageing mice that develop pronounced kyphosis
• 5 of 23 mice exhibit abnormal hyperactivity, excitability and nervous behavior but only 1 mouse continued to display these behaviors beyond 2 months of age

cellular
• mouse embryonic fibroblasts exhibit increased sensitivity to oxidative stress induced by paraquat treatment compared to similarly treated wild-type cells

growth/size/body
• some mice exhibit reduced weight between P10 and P21 compared to wild-type mice
• after P10 mice fail to gain weight
• however, mice surviving after 3 months reach normal weight

skeleton
• at 1.5 years of age, mice exhibit deformed and thickened skulls, mainly in the occipital region, compared to wild-type mice
• severe in the last week of live for mice that die prematurely
• between 8 and 12 months, 5 of 23 mice exhibit premature kyphosis

muscle
• occasional in 30% of mice at 2 months of age

craniofacial
• at 1.5 years of age, mice exhibit deformed and thickened skulls, mainly in the occipital region, compared to wild-type mice

endocrine/exocrine glands
• prematurely at 1.5 years of age


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/25/2025
MGI 6.24
The Jackson Laboratory