Mouse Genome Informatics
hm
    Gjc2tm2.1Kwi/Gjc2tm2.1Kwi
involves: C57BL/6 * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
nervous system
• in the cerebellar white matter at P10 but not at P90
• cystic degeneration of CNS white matter is seen in the prechiasmatic optic fascicle
• at P10, fewer fine fibers are seen in the granular layer of the cerebellum and these fibers do not reach the Purkinje cell layer
• at P16, scattered groups of mainly Purkinje neurons in various stages of degeneration are seen in the cerebellar gray matter
• at P90 fine fibers pervading the granular layer are almost absent
• at P10, vacuoles are occasionally present in the white matter tract and myelin protein appears inhomogeneous
• at P16, cystic spaces filled with cellular debris are seen in the white matter
• at P90 myelin protein appears inhomogeneous but vacuoles are no longer detected
• at P16, scattered groups of mainly Purkinje neurons in various stages of degeneration are seen in the cerebellar gray matter
• conspicuous astrogliosis in the cerebellar white matter at P10
• increase in the number of lacZ positive oligodendrocytes is seen as early as P7 and numbers remain elevated throughout postnatal brain development (P7 - P105)
• an increase is detected in multiple brain regions with the highest levels at early times seen in the cerebellar white matter
• a progressive increase in numbers of cells and regions of the brain affected is seen with age
• decrease in the number of coupled cells per network in biocytin treated cells compared to wild-type cells
• impairment in myelin protein synthesis
• delayed myelin formation in the cerebellar white matter

behavior/neurological
• impaired rotarod performance in the acquisition phase of the task but not in the retention phase at 23 days of age but not at 3 months of age

hematopoietic system
• in the cerebellar white matter at P10 but not at P90

immune system
• in the cerebellar white matter at P10 but not at P90

Mouse Models of Human Disease
OMIM IDRef(s)
Leukodystrophy, Hypomyelinating, 2; HLD2 608804 J:174197