Phenotypes Associated with This Genotype

Genotype
MGI:5312300

• Allelic Composition: Ercc6^tm1Gvh/Ercc6^tm1Gvh; Xpa^tm1Gvh/Xpa^tm1Hvs; Tg(Camk2a-cre)1Szi/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CBA

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

Dilated ventricles and brain atrophy in Ercc6^tm1Gvh/Ercc6^tm1Gvh Xpa^tm1Gvh/Xpa^tm1Hvs Tg(Camk2a-cre)1Szi/0 mice

mortality/aging

premature death ( J:179808 )

• between 12 and 22 months

nervous system

seizures ( J:179808 )

• from 9 to 12 months of age, mice exhibit seizure behavior characterized by episodes of immobility unlike control mice

astrocytosis ( J:179808 )

microgliosis ( J:179808 )

abnormal telencephalon morphology ( J:179808 )

• at 6 to 12 months of age, mice exhibit atrophy in the telencephalon (cortex, hippocampus, caudate-putamen and septum) unlike control mice

dilated lateral ventricle ( J:179808 )

• at 65 weeks

abnormal dorsal striatum morphology ( J:179808 )

• atrophic at 6 to 12 months of age

hippocampus atrophy ( J:179808 )

• atrophic at 6 to 12 months of age

abnormal cerebral cortex morphology ( J:179808 )

• mild atrophy at 6 months of age

• severe atrophy in older mice

abnormal neocortex morphology ( J:179808 )

• atrophic at 65 weeks

thin cerebral cortex ( J:179808 )

• at 6 to 12 months of age

neuron degeneration ( J:179808 )

behavior/neurological

increased thigmotaxis ( J:179808 )

impaired coordination ( J:179808 )

• at 12 months of age

seizures ( J:179808 )

• from 9 to 12 months of age, mice exhibit seizure behavior characterized by episodes of immobility unlike control mice

growth/size/body

decreased body size ( J:179808 )

• at 9 to 12 months of age

decreased body weight ( J:179808 )

• at 9 to 12 months of age

immune system

microgliosis ( J:179808 )

hematopoietic system

microgliosis ( J:179808 )

cellular

astrocytosis ( J:179808 )

microgliosis ( J:179808 )