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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 (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• in the cerebellar white matter at P10 but not at P90 (J:174197)
• in the cerebellar white matter at P10 but not at P90 (J:174197)
• cystic degeneration of CNS white matter is seen in the prechiasmatic optic fascicle (J:174197)
• cystic degeneration of CNS white matter is seen in the prechiasmatic optic fascicle (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 (J:174197)
• at P16, scattered groups of mainly Purkinje neurons in various stages of degeneration are seen in the cerebellar gray matter (J:174197)
• at P90 fine fibers pervading the granular layer are almost absent (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 (J:174197)
• at P16, scattered groups of mainly Purkinje neurons in various stages of degeneration are seen in the cerebellar gray matter (J:174197)
• at P90 fine fibers pervading the granular layer are almost absent (J:174197)
• at P10, vacuoles are occasionally present in the white matter tract and myelin protein appears inhomogeneous (J:174197)
• at P16, cystic spaces filled with cellular debris are seen in the white matter (J:174197)
• at P90 myelin protein appears inhomogeneous but vacuoles are no longer detected (J:174197)
• at P10, vacuoles are occasionally present in the white matter tract and myelin protein appears inhomogeneous (J:174197)
• at P16, cystic spaces filled with cellular debris are seen in the white matter (J:174197)
• at P90 myelin protein appears inhomogeneous but vacuoles are no longer detected (J:174197)
• at P16, scattered groups of mainly Purkinje neurons in various stages of degeneration are seen in the cerebellar gray matter (J:174197)
• at P16, scattered groups of mainly Purkinje neurons in various stages of degeneration are seen in the cerebellar gray matter (J:174197)
• conspicuous astrogliosis in the cerebellar white matter at P10 (J:174197)
• conspicuous astrogliosis in the cerebellar white matter at P10 (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) (J:174197)
• an increase is detected in multiple brain regions with the highest levels at early times seen in the cerebellar white matter (J:174197)
• a progressive increase in numbers of cells and regions of the brain affected is seen with age (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) (J:174197)
• an increase is detected in multiple brain regions with the highest levels at early times seen in the cerebellar white matter (J:174197)
• a progressive increase in numbers of cells and regions of the brain affected is seen with age (J:174197)
• decrease in the number of coupled cells per network in biocytin treated cells compared to wild-type cells (J:174197)
• impairment in myelin protein synthesis (J:174197)
• decrease in the number of coupled cells per network in biocytin treated cells compared to wild-type cells (J:174197)
• impairment in myelin protein synthesis (J:174197)
• delayed myelin formation in the cerebellar white matter (J:174197)
• delayed myelin formation in the cerebellar white matter (J:174197)

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 (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 (J:174197)

hematopoietic system
• in the cerebellar white matter at P10 but not at P90 (J:174197)
• in the cerebellar white matter at P10 but not at P90 (J:174197)

immune system
• in the cerebellar white matter at P10 but not at P90 (J:174197)
• in the cerebellar white matter at P10 but not at P90 (J:174197)

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory