Phenotypes Associated with This Genotype

Genotype
MGI:3767852

• Allelic Composition: Ercc6^tm1Gvh/Ercc6^tm1Gvh; Xpc^tm1Ecf/Xpc^tm1Ecf
• Genetic Background: involves: 129 * 129P2/OlaHsd * C57BL/6J

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

mortality/aging

postnatal lethality, complete penetrance ( J:122013 )

• die before P22

perinatal lethality, incomplete penetrance ( J:122013 )

• 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

cachexia ( J:122013 )

• develop progressive cachexia in the third week of life

disproportionate dwarf ( J:122013 )

postnatal growth retardation ( J:122013 )

homeostasis/metabolism

impaired base-excision repair ( J:122013 )

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

cellular

increased cellular sensitivity to ultraviolet irradiation induced cell death ( J:122013 )

• MEFs are more UV-sensitive

impaired base-excision repair ( J:122013 )

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