Phenotypes Associated with This Genotype

Genotype
MGI:3767853

• Allelic Composition: Ercc6^tm1Gvh/Ercc6^tm1Gvh; Xpa^tm1Hvs/Xpa^tm1Hvs
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

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

Ercc6^tm1Gvh/Ercc6^tm1Gvh Xpa^tm1Hvs/Xpa^tm1Hvs mice display postnatal growth retardation

mortality/aging

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

postnatal lethality, complete penetrance ( J:122013 )

• die before P22

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

abnormal 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 ( J:122013 )

• MEFs are more UV-sensitive than single Xpa mutants

abnormal base-excision repair ( J:122013 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Cockayne syndrome		DOID:2962		J:122013