Phenotypes Associated with This Genotype

Genotype
MGI:5140117

• Allelic Composition: Gjc2^tm2.1Kwi/Gjc2^tm2.1Kwi
• Genetic Background: involves: C57BL/6 * SJL

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

Toluidine blue/pyronin g stained semi-thin sections reveal cystic spaces in white matter of Gjc2^tm2.1Kwi/Gjc2^tm2.1Kwi mice

nervous system

microgliosis ( J:174197 )

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

abnormal brain white matter morphology ( J:174197 )

• cystic degeneration of CNS white matter is seen in the prechiasmatic optic fascicle

abnormal cerebellum morphology ( J:174197 )

• 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

abnormal cerebellum white matter morphology ( J:174197 )

• 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

Purkinje cell degeneration ( J:174197 )

• at P16, scattered groups of mainly Purkinje neurons in various stages of degeneration are seen in the cerebellar gray matter

astrocytosis ( J:174197 )

• conspicuous astrogliosis in the cerebellar white matter at P10

increased oligodendrocyte number ( J:174197 )

• 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

abnormal oligodendrocyte physiology ( J:174197 )

• decrease in the number of coupled cells per network in biocytin treated cells compared to wild-type cells

• impairment in myelin protein synthesis

abnormal myelination ( J:174197 )

• delayed myelin formation in the cerebellar white matter

behavior/neurological

abnormal motor learning ( J:174197 )

• 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

microgliosis ( J:174197 )

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

immune system

microgliosis ( J:174197 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypomyelinating leukodystrophy 2		DOID:0060787	OMIM:608804	J:174197