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 (22 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 (22 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24