All Phenotypes Gjc2<tm1(EGFP)Kwi> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gjc2^tm1(EGFP)Kwi/Gjc2^tm1(EGFP)Kwi	involves: 129P2/OlaHsd * C57BL/6	MGI:2669665
cx2	Gjc2^tm1(EGFP)Kwi/Gjc2^tm1(EGFP)Kwi Gjb1^tm1Kwi/Gjb1^tm1Kwi	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6	MGI:2669721
cx3	Gjb1^tm1Kwi/Y Gjc2^tm1(EGFP)Kwi/Gjc2^tm1(EGFP)Kwi	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6	MGI:5688778

Allelic Composition	Gjc2^tm1(EGFP)Kwi/Gjc2^tm1(EGFP)Kwi
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjc2^tm1(EGFP)Kwi 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 morphology ( J:83885 )

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

abnormal cerebellum white matter morphology ( J:174197 )

• at P10, vacuoles are occasionally present in the white matter tract and myelin protein appears inhomogeneous

• conspicuous astrogliosis in the cerebellar white matter at P10

astrocytosis ( J:174197 )

• conspicuous astrogliosis in the cerebellar white matter at P10

neurodegeneration ( J:83885 )

• vacuolated nerve fibers were reported, notably in the proximal segment of the optic nerve near where myelination starts

abnormal oligodendrocyte physiology ( J:174197 )

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

abnormal myelination ( J:83885 , J:174197 )

• observed in the proximal region of the optic nerve (J:83885)

• peripheral myelin was unaffected (J:83885)

• delayed myelin formation in the cerebellar white matter (J:174197)

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

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

mortality/aging

premature death ( J:83885 , J:219594 )

• animals die at about 3 months of age (J:83885)

• mice begin to die from the 4th week of age and less than 20% survive beyond the 6th week and all die by 12 weeks (J:219594)

behavior/neurological

tremors ( J:83885 , J:219594 )

• mice express a phenotype similar to shiverer mice starting at about 3 to 4 weeks of age (J:83885)

• tremor followed by tonic seizures during the 4th-5th week of age, which increases in frequency and severity (J:219594)

impaired coordination ( J:219594 )

• mice spend less time on the rotarod

abnormal gait ( J:219594 )

• mice exhibit an increase in missteps in the foot slip test

seizures ( J:83885 )

• mice express a phenotype similar to shiverer mice starting at about 3 to 4 weeks of age

tonic seizures ( J:83885 , J:219594 )

• the tremor phenotype eventually developed into tonic seizures and sporadic convulsions (J:83885)

• tremor followed by tonic seizures during the 4th-5th week of age, which increases in frequency and severity (J:219594)

sporadic seizures ( J:83885 )

• the tremor phenotype eventually developed into tonic seizures and sporatic convulsions

hematopoietic system

microgliosis ( J:219594 )

• increase in activation of microglia in the optic nerve

immune system

microgliosis ( J:219594 )

• increase in activation of microglia in the optic nerve

spinal cord inflammation ( J:219594 )

• inflammation in the spinal cord

optic nerve inflammation ( J:219594 )

• inflammation in the optic nerve

nervous system

seizures ( J:83885 )

• mice express a phenotype similar to shiverer mice starting at about 3 to 4 weeks of age

tonic seizures ( J:83885 , J:219594 )

• the tremor phenotype eventually developed into tonic seizures and sporadic convulsions (J:83885)

• tremor followed by tonic seizures during the 4th-5th week of age, which increases in frequency and severity (J:219594)

sporadic seizures ( J:83885 )

• the tremor phenotype eventually developed into tonic seizures and sporatic convulsions

abnormal oligodendrocyte apoptosis ( J:219594 )

• increase in oligodendrocyte apoptosis

microgliosis ( J:219594 )

• increase in activation of microglia in the optic nerve

spinal cord inflammation ( J:219594 )

• inflammation in the spinal cord

optic nerve inflammation ( J:219594 )

• inflammation in the optic nerve

astrocytosis ( J:219594 )

abnormal oligodendrocyte morphology ( J:219594 )

• oligodendrocytes are gap junction deficient

neurodegeneration ( J:83885 )

• vacuolated nerve fibers throughout the CNS were more severe than in the Gja12^{tm1(EGFP)Kwi)} single mutant

• vacuoles were prominent in the transition zone of the optic nerve, chiasma opticum, and spinal cord

axon degeneration ( J:219594 )

• axonal degeneration of oligodendrocytes in the spinal cord funiculi and the optic nerve

abnormal myelination ( J:83885 )

• myelination was delayed compared to wild-type littermates

• peripheral myelin was unaffected in mice examined at 4 weeks of age

demyelination ( J:219594 )

• severe demyelination of oligodendrocytes in the spinal cord funiculi and the optic nerve

dysmyelination ( J:219594 )

• some large axons in the anterior and posterior funiculi of the spinal cord are thinly myelinated

cellular

abnormal oligodendrocyte apoptosis ( J:219594 )

• increase in oligodendrocyte apoptosis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypomyelinating leukodystrophy 2		DOID:0060787	OMIM:608804	J:219594

Allelic Composition	Gjb1^tm1Kwi/Y Gjc2^tm1(EGFP)Kwi/Gjc2^tm1(EGFP)Kwi
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gjb1^tm1Kwi mutation (1 available); any Gjb1 mutation (27 available)
Gjc2^tm1(EGFP)Kwi mutation (1 available); any Gjc2 mutation (22 available)

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

mortality/aging

premature death ( J:219594 )

• mice begin to die from the 4th week of age and less than 20% survive beyond the 6th week and all die by 12 weeks

behavior/neurological

tremors ( J:219594 )

• tremor followed by tonic seizures during the 4th-5th week of age, which increases in frequency and severity

impaired coordination ( J:219594 )

• mice spend less time on the rotarod

abnormal gait ( J:219594 )

• mice exhibit an increase in missteps in the foot slip test

tonic seizures ( J:219594 )

• tremor followed by tonic seizures during the 4th-5th week of age, which increases in frequency and severity

hematopoietic system

microgliosis ( J:219594 )

• increase in activation of microglia in the optic nerve

immune system

microgliosis ( J:219594 )

• increase in activation of microglia in the optic nerve

spinal cord inflammation ( J:219594 )

• inflammation in the spinal cord

optic nerve inflammation ( J:219594 )

• inflammation in the optic nerve

cellular

abnormal oligodendrocyte apoptosis ( J:219594 )

• increase in oligodendrocyte apoptosis

nervous system

tonic seizures ( J:219594 )

• tremor followed by tonic seizures during the 4th-5th week of age, which increases in frequency and severity

abnormal oligodendrocyte apoptosis ( J:219594 )

• increase in oligodendrocyte apoptosis

microgliosis ( J:219594 )

• increase in activation of microglia in the optic nerve

spinal cord inflammation ( J:219594 )

• inflammation in the spinal cord

optic nerve inflammation ( J:219594 )

• inflammation in the optic nerve

astrocytosis ( J:219594 )

abnormal oligodendrocyte morphology ( J:219594 )

• oligodendrocytes are gap junction deficient

axon degeneration ( J:219594 )

• axonal degeneration of oligodendrocytes in the spinal cord funiculi and the optic nerve

demyelination ( J:219594 )

• severe demyelination of oligodendrocytes in the spinal cord funiculi and the optic nerve

dysmyelination ( J:219594 )

• some large axons in the anterior and posterior funiculi of the spinal cord are thinly myelinated

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypomyelinating leukodystrophy 2		DOID:0060787	OMIM:608804	J:219594

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 12/10/2024 MGI 6.24