Phenotypes Associated with This Genotype

Genotype
MGI:6386716

• Allelic Composition: Hsp90aa1^{Tg(Tyr)2396BOve}/Hsp90aa1^{Tg(Tyr)2396BOve}
• Genetic Background: involves: C57BL/6 * FVB/N * FVB/NJ

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

vision/eye

increased retina apoptosis ( J:283232 )

• photoreceptor apoptosis is seen in the 6-week old retina but not at 3 weeks of age

abnormal retina photoreceptor morphology ( J:283232 )

• Golgi apparatus is misplaced or broken/disintegrated in photoreceptors and not confined in the inner segment region and is distributed in a larger cytoplasmic area already at 3 weeks of age

• photoreceptors show aberrant intersegmental vesicle transportation

abnormal photoreceptor connecting cilium morphology ( J:283232 )

• the connecting cilium is misplaced and less organized

photoreceptor inner segment degeneration ( J:283232 )

• inner segments are deteriorated with rough membrane surface and deformed shapes

abnormal photoreceptor outer segment morphology ( J:283232 )

• outer segments are swollen and deformed

abnormal photoreceptor outer segment disc membrane morphology ( J:283232 )

• outer segment membrane discs are twisted and coiled

retina photoreceptor degeneration ( J:283232 )

• loss of photoreceptors is detected at 6 weeks of age and massive loss is seen by 15 weeks of age

thin retina outer nuclear layer ( J:283232 )

• the outer nuclear layer is thinner in 6-week old mice

retina degeneration ( J:283232 )

abnormal electroretinogram waveform feature ( J:283232 )

• ERG amplitudes of 3-week old mice are decreased and no ERG amplitude in response to light stimulation is seen at 20 weeks of age

decreased a-wave amplitude ( J:283232 )

• a-wave amplitude of rod-ERG and max-ERG (combined functions of both rod and cone cells) are decreased at 3 and 20 weeks of age

decreased b-wave amplitude ( J:283232 )

• b-wave amplitude of rod-ERG and max-ERG are decreased at 3 and 20 weeks of age

blindness ( J:283232 )

• mice are essentially blind by 20 weeks of age

nervous system

abnormal retina photoreceptor morphology ( J:283232 )

• Golgi apparatus is misplaced or broken/disintegrated in photoreceptors and not confined in the inner segment region and is distributed in a larger cytoplasmic area already at 3 weeks of age

• photoreceptors show aberrant intersegmental vesicle transportation

abnormal photoreceptor connecting cilium morphology ( J:283232 )

• the connecting cilium is misplaced and less organized

photoreceptor inner segment degeneration ( J:283232 )

• inner segments are deteriorated with rough membrane surface and deformed shapes

abnormal photoreceptor outer segment morphology ( J:283232 )

• outer segments are swollen and deformed

abnormal photoreceptor outer segment disc membrane morphology ( J:283232 )

• outer segment membrane discs are twisted and coiled

retina photoreceptor degeneration ( J:283232 )

• loss of photoreceptors is detected at 6 weeks of age and massive loss is seen by 15 weeks of age

cellular

abnormal photoreceptor connecting cilium morphology ( J:283232 )

• the connecting cilium is misplaced and less organized

increased retina apoptosis ( J:283232 )

• photoreceptor apoptosis is seen in the 6-week old retina but not at 3 weeks of age