Phenotypes Associated with This Genotype

Genotype
MGI:3767861

• Allelic Composition: Ercc6^tm1Gvh/Ercc6^tm1Gvh; Xpa^tm1Hvs/Xpa^tm1Hvs
• Genetic Background: B6.129P2-Xpa^tm1Hvs Ercc6^tm1Gvh

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

Skeletal and neurological abnormalities in Ercc6^tm1Gvh/Ercc6^tm1Gvh Xpa^tm1Hvs/Xpa^tm1Hvs mice

mortality/aging

premature aging ( J:122013 )

growth/size/body

postnatal growth retardation ( J:122013 )

• near normal size of skull at P11 and P21, implying that postnatal growth retardation is restricted to the trunk

cellular

increased cellular sensitivity to gamma-irradiation ( J:122013 )

• retina exhibits enhanced ionizing radiation sensitivity

adipose tissue

abnormal abdominal fat pad morphology ( J:122013 )

• substantial loss of abdominal fat is seen in P15 mutants

lipodystrophy ( J:122013 )

• generalized lipodystrophy (loss and abnormal redistribution of body fat)

behavior/neurological

dystonia ( J:122013 )

tremors ( J:122013 )

• tremors become evident around P10

ataxia ( J:122013 )

abnormal limb posture ( J:122013 )

• abnormal posture of the hind limbs (flexion rather than extension in tail suspension test) becomes evident around P10

abnormal gait ( J:122013 )

• disturbed gait from P15 onwards, showing a non-uniform alternating left-right step pattern and unevenly spaced shorter strides

short stride length ( J:122013 )

• unevenly spaced shorter strides

homeostasis/metabolism

hypoglycemia ( J:122013 )

• significantly lower blood glucose levels; following an initial reduction of about 30% in 7 and 10 day old mutants, blood glucose levels start to drop at P15

• presence of milk and food in the stomach and normal appearance of intestinal epithelium indicates that hypoglycemia is not due to food intake

increased liver glycogen level ( J:122013 )

• pups exhibit enhanced hepatic accumulation of glycogen in unusually large vesicles

vision/eye

abnormal retina morphology ( J:122013 )

• retina exhibits enhanced ionizing radiation sensitivity

abnormal retina inner nuclear layer morphology ( J:122013 )

• number of apoptotic cells in the inner nuclear layer of the retina is increased compared to wild-type or single mutant mice

abnormal retina outer nuclear layer morphology ( J:122013 )

• number of apoptotic cells in the outer nuclear layer of the retina is increased compared to wild-type or single mutant mice

retina degeneration ( J:122013 )

• increased apoptosis in the outer and inner nuclear layers

skeleton

kyphosis ( J:122013 )

• kyphosis is seen at P21 but not at P11

abnormal epiphyseal plate morphology ( J:122013 )

• less developed tibiae growth plate

nervous system

abnormal Purkinje cell morphology ( J:122013 )

• Purkinje cell loss

muscle

dystonia ( J:122013 )

liver/biliary system

increased liver glycogen level ( J:122013 )

• pups exhibit enhanced hepatic accumulation of glycogen in unusually large vesicles

hepatic steatosis ( J:122013 )

• livers show enhanced accumulation of triglycerides, indicating hepatic steatosis

limbs/digits/tail

long limbs ( J:122013 )

• as pups lose weight in the third week of life, bone growth proceeds, resulting in relatively large extremities

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