Phenotypes Associated with This Genotype

Genotype
MGI:2675155

cx7

• Allelic Composition: Gjc2^tm1Paul/Gjc2^tm1Paul; Gjb1^tm1Kwi/Gjb1^tm1Kwi
• Genetic Background: involves: 129/Sv * C57BL/6

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

mortality/aging

premature death ( J:84338 )

♀ • animals die around 6 weeks of age

behavior/neurological

tremors ( J:84338 )

♀ • coarse action tremor developed during the third week of age

♀ • tremor was accentuated with movement

♀ • condition worsened with time

tonic seizures ( J:84338 )

♀ • develop by week 4-5

♀ • characterized by limb extension and loss of consciousness

♀ • frequency and severity increased until death around week 6

vision/eye

absent optic nerve ( J:84338 )

♀ • delayed myelination in optic nerve

♀ • no myelin sheath at day 7

♀ • myelination abnormalities appear as myelination increased

nervous system

tonic seizures ( J:84338 )

♀ • develop by week 4-5

♀ • characterized by limb extension and loss of consciousness

♀ • frequency and severity increased until death around week 6

absent optic nerve ( J:84338 )

♀ • delayed myelination in optic nerve

♀ • no myelin sheath at day 7

♀ • myelination abnormalities appear as myelination increased

abnormal myelination ( J:84338 )

♀ • thin myelin sheaths

♀ • enlarged extra cellular spaces under sheaths

♀ • abnormal oligodendrocytes

♀ • empty myelin sheaths

♀ • variability from one tract to another in conditions observed

♀ • apoptotic cells in affected tracts

demyelination ( J:84338 )

♀ • demyelinated axons