Phenotypes Associated with This Genotype

Genotype
MGI:2669721

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

• ♀: 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