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Phenotypes Associated with This Genotype
Genotype
MGI:5140117
Allelic
Composition
Gjc2tm2.1Kwi/Gjc2tm2.1Kwi
Genetic
Background
involves: C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjc2tm2.1Kwi mutation (1 available); any Gjc2 mutation (21 available)
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 Gjc2tm2.1Kwi/Gjc2tm2.1Kwi mice

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
DO ID OMIM ID(s) Ref(s)
hypomyelinating leukodystrophy 2 DOID:0060787 OMIM:608804
J:174197


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
05/28/2024
MGI 6.13
The Jackson Laboratory