Phenotypes associated with this allele

• Allele Symbol: Gja8^tm1Rtm
• Allele Name: targeted mutation 1, Richard T Mathias
• Allele ID: MGI:3620557
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gja8^tm1Rtm/Gja8^tm1Rtm	involves: 129/Sv * C57BL/6	MGI:3620835

Genotype
MGI:3620835

hm1

• Allelic Composition: Gja8^tm1Rtm/Gja8^tm1Rtm
• Genetic Background: involves: 129/Sv * C57BL/6

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

vision/eye

abnormal lens morphology ( J:106299 )

• the lenses of knockouts are abnormally small compared to wild-type

• lenses deteriorate rapidly after dissection

• the input conductance per unit area of lens surface is higher in nulls

cataract ( J:106299 )

• the central mature fibers have a complete breakdown in homeostasis and develop a dense cataract

abnormal eye physiology ( J:106299 )

• loss of lens pH sensitivity as gap junction gating in response to pH changes in differentiating fibers of the lens is regulated by connexin alpha 8; lenses from knockouts have a limited ability to gate closed in response to acidification

abnormal eye electrophysiology ( J:106299 )

• the intracellular voltage in lenses from knockouts is uniformly depolarized relative to wild-type where there is a voltage gradient with the central-most cells having a positive resting voltage compared to the outermost cells

• knockout lenses rapidly depolarize in the transition from differentiating fibers to mature fibers; there is a dramatic decrease in gap junctional conductance in knockouts

• the coupling conductance of differentiating fibers in lenses of null mice is decreased by 60%; in heterozygotes, it is decreased by 30%