All Phenotypes Gjc2<tm2.1Kwi> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gjc2^tm2.1Kwi/Gjc2^tm2.1Kwi	involves: C57BL/6 * SJL	MGI:5140117
ht2	Gjc2^tm2.1Kwi/Gjc2⁺	involves: C57BL/6 * SJL	MGI:5140118
cx3	Gjb1^tm1Kwi/Y Gjc2^tm2.1Kwi/Gjc2^tm2.1Kwi	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:5140119

♀	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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjc2^tm2.1Kwi mutation (1 available); any Gjc2 mutation (21 available)

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

Disturbed myelin basic protein (MBP) expression accompanied by astrogliosis and microglial activation in juvenile Gjc2^tm2.1Kwi/Gjc2^tm2.1Kwi, Gjc2^tm2.1Kwi/Gjc2⁺, and Gjc2^tm1(EGFP)Kwi/Gjc2^tm1(EGFP)Kwi mice

nervous system

microgliosis ( J:174197 )

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

abnormal brain white matter morphology ( J:174197 )

• a few swollen and degenerating cells are seen in the optic fascicle

abnormal cerebellum morphology ( J:174197 )

• at P90 fine fibers pervading the granular layer are almost absent

increased oligodendrocyte number ( J:174197 )

• in the white and gray matter

abnormal oligodendrocyte physiology ( J:174197 )

• decrease in the number of cells forming networks after biocytin injections into single cells

• impairment in myelin protein synthesis

behavior/neurological

decreased vertical activity ( J:174197 )

• decrease in rearing activity at 3 months of age in an open field

decreased locomotor activity ( J:174197 )

• decreased locomotion and running speed at 3 months of age in an open field

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

Allelic Composition	Gjb1^tm1Kwi/Y Gjc2^tm2.1Kwi/Gjc2^tm2.1Kwi
Genetic Background	involves: 129S4/SvJae * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjb1^tm1Kwi mutation (1 available); any Gjb1 mutation (27 available)
Gjc2^tm2.1Kwi mutation (1 available); any Gjc2 mutation (21 available)

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

Insufficient myelination resulting from loss of Gjc2 (Cx47) function is largely compensated in adult Gjc2^tm2.1Kwi/Gjc2⁺ and Gjc2^tm2.1Kwi/Gjc2^tm2.1Kwi mice

mortality/aging

premature death ( J:174197 )

• begin to die at 42 days of age

nervous system

astrocytosis ( J:174197 )

abnormal myelination ( J:174197 )

• only minimal amounts of myelin protein are detected in cerebellar lysates

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:174197 )

• severe motor impairment in mice that reach 3 months of age

ataxia ( J:174197 )

• develops a few days before death

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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