Mouse Genome Informatics
cx
    Ercc6tm1Gvh/Ercc6tm1Gvh
Xpctm1Brd/Xpctm1Brd

involves: 129P2/OlaHsd * 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mutants die around P21

growth/size/body
• mutants exhibit whole-body wasting
• mutants fail to thrive and show a 50% reduction in body weight at death

behavior/neurological
• abnormal clasping reflex and complete inactivity upon tail suspension
• on the rotarod, mutants are unable to stay on the rotating beam
• mutants exhibit deficits in the catwalk gait analysis test, with shorter stride lengths than controls and reduced base of support in both the front and hind paws

nervous system
• mutants exhibit widespread reduction of myelin basic protein (MBP) and myelin in the sensorimotor cortex, the stratum radiatum, the corpus callosum, and the anterior commissure
• oligodendrocytes appear to exhibit normal proliferation and differentiation, however they are unable to generate sufficient MBP or to maintain the proper myelination during early development, indicating that they may not mature into MBP-synthesizing cells
• mutants exhibit hypomyelination in the anterior commissure and corpus callosum due to dysmyelination and not demyelination
• reduction in both the number of myelinated axons and the average diameter of myelin surrounding the axons

Mouse Models of Human Disease
OMIM IDRef(s)
Cerebrooculofacioskeletal Syndrome 1; COFS1 214150 J:182229