Phenotypes Associated with This Genotype

Genotype
MGI:5140119

cx6

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

• ♀: 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