Phenotypes Associated with This Genotype

Genotype
MGI:5319078

• Allelic Composition: Ercc6^tm1Gvh/Ercc6^tm1Gvh; Xpc^tm1Brd/Xpc^tm1Brd
• Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

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

mortality/aging

lethality at weaning, complete penetrance ( J:182229 )

• mutants die around P21

growth/size/body

cachexia ( J:182229 )

• mutants exhibit whole-body wasting

postnatal growth retardation ( J:182229 )

• mutants fail to thrive and show a 50% reduction in body weight at death

behavior/neurological

limb grasping ( J:182229 )

• abnormal clasping reflex and complete inactivity upon tail suspension

ataxia ( J:182229 )

impaired coordination ( J:182229 )

• on the rotarod, mutants are unable to stay on the rotating beam

abnormal gait ( J:182229 )

• 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

short stride length ( J:182229 )

nervous system

abnormal myelin sheath morphology ( J:182229 )

• 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

abnormal oligodendrocyte physiology ( J:182229 )

• 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

abnormal myelination ( J:182229 )

• 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