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Phenotypes Associated with This Genotype
Genotype
MGI:3767853
Allelic
Composition
Ercc6tm1Gvh/Ercc6tm1Gvh
Xpatm1Hvs/Xpatm1Hvs
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ercc6tm1Gvh mutation (0 available); any Ercc6 mutation (33 available)
Xpatm1Hvs mutation (2 available); any Xpa mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Ercc6tm1Gvh/Ercc6tm1Gvh Xpatm1Hvs/Xpatm1Hvs mice display postnatal growth retardation

mortality/aging
• number of double mutant pups is about 3-fold below the expected numbers, however normal numbers are seen at E18.5, indicating some lethality during or shortly after birth

growth/size/body
• develop progressive cachexia in the third week of life

homeostasis/metabolism
• analysis of UV-induced repair synthesis and RNA synthesis recovery show complete inactivation of nucleotide excision repair (NER)

cellular
• analysis of UV-induced repair synthesis and RNA synthesis recovery show complete inactivation of nucleotide excision repair (NER)
• MEFs are more UV-sensitive than single Xpa mutants

Mouse Models of Human Disease
OMIM ID Ref(s)
Cockayne Syndrome B; CSB 133540 J:122013


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory