Mouse Genome Informatics
cx
    Ercc6tm1Gvh/Ercc6tm1Gvh
Xpatm1Hvs/Xpatm1Hvs

B6.129P2-Xpatm1Hvs Ercc6tm1Gvh
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Skeletal and neurological abnormalities in Ercc6tm1Gvh/Ercc6tm1Gvh Xpatm1Hvs/Xpatm1Hvs mice

mortality/aging

growth/size/body
• generalized lipodystrophy (loss and abnormal redistribution of body fat)
• near normal size of skull at P11 and P21, implying that postnatal growth retardation is restricted to the trunk

cellular
• retina exhibits enhanced ionizing radiation sensitivity

adipose tissue
• generalized lipodystrophy (loss and abnormal redistribution of body fat)
• substantial loss of abdominal fat is seen in P15 mutants

behavior/neurological
• tremors become evident around P10
• abnormal posture of the hind limbs (flexion rather than extension in tail suspension test) becomes evident around P10
• disturbed gait from P15 onwards, showing a non-uniform alternating left-right step pattern and unevenly spaced shorter strides
• unevenly spaced shorter strides

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

vision/eye
• retina exhibits enhanced ionizing radiation sensitivity
• number of apoptotic cells in the inner nuclear layer of the retina is increased compared to wild-type or single mutant mice
• number of apoptotic cells in the outer nuclear layer of the retina is increased compared to wild-type or single mutant mice
• increased apoptosis in the outer and inner nuclear layers

skeleton
• kyphosis is seen at P21 but not at P11
• less developed tibiae growth plate

nervous system
• Purkinje cell loss

muscle

liver/biliary system
• livers show enhanced accumulation of triglycerides, indicating hepatic steatosis

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

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