Amino acid replacement: W341term.
G16132566A
W341term | spin-PA; W341term | spin-PB; W341term | spin-PC; W341term | spin-PD; W341term | spin-PE
W341term
G to A nucleotide change at the second or third position of the Trp codon leads to a nonsense mutation (exact site of mutation unspecified). Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.
short lived (with spinΔ2b)
short lived (with spinΔ29)
short lived (with spinΔ31)
short lived (with spinΔ86)
adult brain (with spinΔ86)
wing vein | increased number (with spinΔ2b)
wing vein | increased number (with spinΔ29)
wing vein | increased number (with spinΔ31)
wing vein | increased number (with spinΔ86)
The following heterozygotes show small amounts of adult escapers, depending on culture conditions: spinP/spinΔ31, spinP/spinΔ86, spinP/spinΔ29 and spinP/spinΔ2b. Adult escapers exhibit progressive locomotor defects, such as difficulty in righting after a fall. These defects worsen during the days after emergence and result in death within 5-12 days. The escapers appear morphologically normal except for a subtle, completely penetrant extra wing vein phenotype.
Electroretinogram (ERG) recordings from the eyes of <4-day-old spinP/spinΔ86 adult escapers show a depolarization in response to light similar to controls but lack on/off transients and exhibit slowed repolarization.
The brains of spinP/spinΔ86 escapers show severe neuronal loss characterized by a significant decrease in the number of neuronal cell bodies and severe vacuolization in cortical brain layers. The layered architecture of the visual lobe is disrupted and the medulla does not undergo its normal rotation with respect to the antero-posterior axis. The eyes of 4-day-old spinP/spinΔ86 flies show a loss of retinal structural integrity associated with the accumulation of PAS-positive carbohydrate granules. This defect is not observed in 1-day-old spinP/spinΔ86 flies.