Phenotypes Associated with This Genotype

Genotype
MGI:4821791

ht3

• Allelic Composition: Gjb1^tm1Kwi/Gjb1⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

nervous system

abnormal nervous system morphology ( J:85828 )

♀ • heterozygous females develop a milder demyelinating peripheral neuropathy than seen in homozygous females or hemizygous males

abnormal Schwann cell morphology ( J:85828 )

♀ • heterozygous females develop onion bulbs, consisting of supernumerary Schwann cells around axons resulting from repeating demyelination and remyelination

♀ • accumulation of adaxonal Schwann cell cytoplasm

abnormal myelin sheath morphology ( J:85828 )

♀ • nerves exhibit splitting of the myelin sheath itself

demyelination ( J:85828 )

♀ • demyelinated and remyelinated axons are seen in motor and sensory branches of the femoral nerve, in the ventral and dorsal roots, and in sciatic nerve of 9 and 12 month old females

♀ • femoral motor branch and ventral roots are more affected than the femoral sensory branch and the dorsal roots