Nucleotide substitution: C1607T.
C23852956T
C1607T
A401V | gbb-PA; A401V | gbb-PB
A380V
The reported site of gbb4 in FBrf0109147 is base 1607 and amino acid 380 (Ala). This is not consistent because base 1607 actually corresponds to amino acid 401 which is also an Ala. The latter is the presumed site of the mutation since the codon (GCG) at that site matches the codon sequence reported in the paper while the codon corresponding to aa 380 is GCC.
synaptic vesicle (with gbb1)
wing vein L4 (with gbb5I)
wing vein L4 | distal (with gbb1)
wing vein L4 | distal (with gbb3)
wing vein L5 (with gbb3)
wing vein L5 (with gbb5I)
wing vein L5 (with gbbD20)
wing vein L5 | distal (with gbb1)
gbb4 homozygotes show complete lethality in the presence of one copy of gbbR126A.R325A.K334N.T:Zzzz\FLAG.
Hemocytes do not localise to the posterior crossvein region in pupal wings homozygous for gbb4, in contrast to wild-type.
In gbb4/gbbD4 males raised to adulthood at 18oC and then shifted to 22oC for 7 days, testes contain an average 1.3 germline stem cells compared to an average of 9.1 in wild-type. Germline stem cells are eliminated completely after a week at 25oC. In gbb4/gbbD20 males raised to adulthood at 18oC and then shifted to 22oC for 7 days, testes contain pn average 1.8 germline stem cells compared to an average of 9.1 in wild-type. Germline stem cells are eliminated completely after a week at 25oC.
In gbb4/gbbD4 females raised to adulthood at 18oC and then shifted to 29oC for 7 days, 88% of germaria lack germ cells. Remaining germaria mostly contain only one germ cell. In identically treated gbb4/gbbD20 females, 60% of germaria lack germ cells, and the remaining germaria mostly contain only one germ cell.
gbb1/gbb4 mutants exhibit a slight but consistent reduction in neurotransmitter release (measured by intracellular recordings from muscle 6 of segment A3). These mutants also show a small reduction in synaptic bouton number. Gross synaptic ultrastructure (examined in 3rd instar larval muscles 6 & 7) appears normal apart from a small population of large vesicles distinct from and unlike synaptic vesicles, and occasional aberrant cytoplasmic electron-dense structures ('T-bodies') that can cluster synaptic vesicles. In the active zones of gbb1/gbb4 mutants there are intermittent detachments between pre- and postsynaptic membranes. Mutant boutons are approximately the same size as wild-type boutons, but the bouton surface area per active zone is increased. However, the bouton surface area per T bar is decreased compared to wild-type. The wings of gbb1/gbb4 adults lack a posterior crossvein, and have a truncated L5 vein.
gbb1/gbb4 males raised at 18oC have significantly smaller testes than normal, with a dramatic reduction in the number of germ cells of all stages, particularly germ line stem cells, spermatogonia and spermatocytes. In the most extreme cases, germ line stem cells, spermatogonia and spermatocytes are completely missing.
gbb1/gbb4 adults lack the posterior crossvein and the distal tips of veins L4 and L5. The overall size of the wing is reduced compared to wild type. gbb3/gbb4 adults lack the posterior crossvein, vein L5 is truncated to the base and L4 is truncated distally. The overall size of the wing is reduced compared to wild type.
Wings small, and more pointed than wild type. In gbb2/gbb4, posterior crossveins are absent. Regions of L4 and L5 are lost. The extent of vein loss depends on the strength of the allelic combination. Some mutant combinations show a slight thickening of distal L2 sometimes with ectopic flanking vein material. The eyes of gbb1/gbb4 are reduced in size with 10-20% ommatidia fewer than wild type. Loss of ommatidia is restricted to the ventral portion of the eye. gbb1/gbb4 and gbb4/gbb4 show extra scutellar and dorsocentral bristles. Ectopic scutellars most often occur in close proximity to the endogenous bristle, but sometimes between the anterior and posterior scutellar bristles.
gbb1/gbb4 animals generally die as larvae, with rare adult escapers (less than 1%). The larvae appear transparent, due to a defect both in the quantity and quality of the fat body, and a dramatic reduction in imaginal tissues. Areas of the brain are also reduced. The larvae develop more slowly than wild-type and never attain wild-type size. Adult escapers have small, misshapen wings, which lack the posterior crossvein, much of wing vein L5, distal portions of vein L4 and the posterior half of the anterior crossvein. There is a loss of intervein material, especially between veins L2 and L3, between L4 and L5 and posterior to L5, resulting in narrow, pointed wings. Thinning of vein L2 and some ectopic vein material in the intervein region flanking vein L2 is common. No abnormalities in position or type of wing bristles are seen along the wing margin, although ectopic margin bristles are often seen along a vein or in intervein tissue in distal regions of the wing. The eyes are smaller than normal and have supernumerary vibrissae, there is an increase in the number of thoracic bristles, and leg segments may be misshapen. Female sterility is also seen. Homozygous adults have a wing phenotype similar to, but less severe than, gbb1/gbb4 escapers; the wing shape is broader and less pointed, more like wild-type, 54% of individuals have a complete anterior crossvein and longitudinal veins L4 and L5 are longer than in gbb1/gbb4 escapers.
gbb5I/gbb4 has visible | adult stage phenotype, suppressible | partially by scwUAS.Tag:FLAG/Scer\GAL4dpp.3KK
gbb5I/gbb4 has visible | adult stage phenotype, suppressible | partially by Scer\GAL4dpp.3KK/scwN1Q.UAS.Tag:FLAG
gbb5I/gbb4 has visible | adult stage phenotype, suppressible | partially by Scer\GAL4dpp.3KK/scwN2Q.UAS.Tag:FLAG
gbb5I/gbb4 has visible | adult stage phenotype, suppressible by Scer\GAL4dpp.3KK/scwN1-N2Q.UAS.Tag:FLAG
gbb5I/gbb4 has visible | adult stage phenotype, suppressible | partially by Scer\GAL4dpp.3KK/gbb::scwscwPD.gbbLD.UAS.Tag:FLAG
gbb5I/gbb4 has visible | adult stage phenotype, suppressible | partially by Scer\GAL4dpp.3KK/gbb::scwscwPD.gbbLD+Glc.UAS.Tag:FLAG
Dp(2;2)DTD48, gbb4 has visible phenotype, suppressible by Hsap\BMP7gbb.PF
Dp(2;2)DTD48, gbb4 has visible phenotype, suppressible by gbb::Hsap\BMP7BMP7LD.gbb
gbb4/gbb1 has visible phenotype, suppressible by Agam\gbb1gbb.PF
gbb4/gbb1 has visible phenotype, suppressible by Agam\gbb2gbb.PF
Dp(2;2)DTD48, gbb4 has visible phenotype, suppressible by scwgbb.PF
gbb4/gbb1 has lethal phenotype, suppressible | partially by Dp(2;2)B16/Dp(2;2)DTD48
gbb4/gbb1 has lethal phenotype, suppressible | partially by Dp(2;2)DTD48
gbb4/gbb1 has lethal phenotype, suppressible | partially by Dp(2;2)B16
Dp(2;2)DTD48, gbb4 has visible phenotype, non-suppressible by scwgbb.PF/cv43
gbb4 is an enhancer of partially lethal - majority die phenotype of Neto109
gbb4/gbb1 is a suppressor of abnormal neuroanatomy phenotype of spictmut
Dp(2;2)DTD48, gbb4 has visible phenotype
Dp(2;2)DTD48, gbb4 has viable phenotype
gbb4/gbb1, sax4 has partially lethal phenotype
gbb4/gbb1, sax5 has partially lethal phenotype
dppd12, gbb4 has partially lethal phenotype
Df(2L)tkv2, gbb4 has viable phenotype
gbb4, sax4 has partially lethal phenotype
gbb4, sax5 has partially lethal phenotype
gbb5I/gbb4 has wing vein L5 phenotype, enhanceable by dppd12/dpp[+]
gbb5I/gbb4 has wing vein L4 phenotype, enhanceable by dppd12/dpp[+]
gbb4 has wing vein L4 phenotype, enhanceable by dppd12
gbb4 has anterior crossvein phenotype, enhanceable by dppd12
gbb4 has wing phenotype, enhanceable by Df(2L)tkv2
gbb4 has anterior crossvein phenotype, enhanceable by dppd5
gbb4 has wing vein L4 phenotype, enhanceable by dppd5
gbb4 has wing vein L2 phenotype, enhanceable by dppd12
gbb4 has wing vein L3 phenotype, enhanceable by dppd12
gbb4 has wing vein L5 phenotype, enhanceable by dppd12
gbb4 has submarginal wing cell phenotype, enhanceable by dppd12
gbb4 has second posterior wing cell phenotype, enhanceable by dppd12
gbb4 has discal wing cell phenotype, enhanceable by dppd12
gbb4 has second basal wing cell phenotype, enhanceable by dppd12
gbb5I/gbb4 has posterior crossvein phenotype, suppressible | partially by scwUAS.Tag:FLAG/Scer\GAL4dpp.3KK
gbb5I/gbb4 has posterior crossvein phenotype, suppressible | partially by Scer\GAL4dpp.3KK/scwN1Q.UAS.Tag:FLAG
gbb5I/gbb4 has posterior crossvein phenotype, suppressible | partially by Scer\GAL4dpp.3KK/scwN2Q.UAS.Tag:FLAG
gbb5I/gbb4 has posterior crossvein phenotype, suppressible by Scer\GAL4dpp.3KK/scwN1-N2Q.UAS.Tag:FLAG
gbb5I/gbb4 has posterior crossvein phenotype, suppressible | partially by Scer\GAL4dpp.3KK/gbb::scwscwPD.gbbLD.UAS.Tag:FLAG
gbb5I/gbb4 has posterior crossvein phenotype, suppressible | partially by Scer\GAL4dpp.3KK/gbb::scwscwPD.gbbLD+Glc.UAS.Tag:FLAG
Dp(2;2)DTD48, gbb4 has posterior crossvein phenotype, suppressible by Hsap\BMP7gbb.PF
Dp(2;2)DTD48, gbb4 has posterior crossvein phenotype, suppressible by gbb::Hsap\BMP7BMP7LD.gbb
gbb4/gbb1 has wing vein phenotype, suppressible by Agam\gbb1gbb.PF
gbb4/gbb1 has wing vein phenotype, suppressible by Agam\gbb2gbb.PF
Dp(2;2)DTD48, gbb4 has posterior crossvein phenotype, suppressible by scwgbb.PF
gbbD20/gbb4 has posterior crossvein phenotype, suppressible by scwgbb.PF
gbbD20/gbb4 has wing vein L5 phenotype, suppressible by scwgbb.PF
gbbD20/gbb4 has male germline stem cell | heat sensitive phenotype, suppressible | partially by Dad[+]/DadP1883
Dp(2;2)DTD48, gbb4 has posterior crossvein phenotype, non-suppressible by scwgbb.PF/cv43
gbb4 is an enhancer of posterior crossvein phenotype of cv-2k03511/cv-2225-3
gbb4/gbb1 is a suppressor of embryonic/larval neuromuscular junction phenotype of spictmut
gbb4/gbb4 is a suppressor of wing vein | ectopic | somatic clone | cell non-autonomous phenotype of sax4
Dp(2;2)DTD48, gbb4 has posterior crossvein phenotype
bamhs.PO, gbb4/gbbD4 has germarium | heat sensitive phenotype
bamhs.PO, gbbD20/gbb4 has germarium | heat sensitive phenotype
dppd12, gbb4/gbb1 has prothoracic tarsal segment | male phenotype
dppd12, gbb4 has prothoracic tarsal segment | male phenotype
The loss of posterior crossvein characteristic for gbb5I/gbb4 can be partially rescued (with varying efficiency) by Scer\GAL4dpp.3KK-driven expression of any of the following: scwScer\UAS.T:Zzzz\FLAG, scwN1Q.Scer\UAS.T:Zzzz\FLAG, scwN2Q.Scer\UAS.T:Zzzz\FLAG, gbb::scwscwPD.gbbLD.Scer\UAS.T:Zzzz\FLAG or gbb::scwscwPD.gbbLD+Glc.Scer\UAS.T:Zzzz\FLAG and fully rescued by the expression of scwN1-N2Q.Scer\UAS.T:Zzzz\FLAG in the mutant background.
gbb4/Dp(2;2)DTD48 gbb4 flies show loss of the posterior crossvein.
A single copy of scwgbb.PF partially rescues the lethality of gbb4/gbbD20 animals (34% of the expected number of adults are recovered) and the loss of posterior crossvein and truncation of L5 that are seen in gbb4/gbbD20 adult escapers are partially restored. Two copies of scwgbb.PF rescue the posterior crossvein and vein L5 phenotypes to nearly wild type.
gbb4 homozygotes are viable in the presence of Dp(2;2)DTD48, but the flies completely lack the posterior crossvein.
The loss of posterior crossvein which is seen in Dp(2;2)DTD48, gbb4/gbb4 flies is rescued by a single copy of scwgbb.PF.
The ability of scwgbb.PF to rescue the loss of posterior crossvein which is seen in Dp(2;2)DTD48, gbb4/gbb4 flies is completely suppressed in a cv43 background.
scwgbb.PF cannot rescue the wing vein defects of gbb1/gbb4 flies in a sax1/sax2 background.
bamhs.PO animals cultured at 18oC and heat shocked as late stage pupae (37oC, 4 times for 2 hours each with an 8-12 hour interval) produce adult females with agametic germaria. If these animals also carry the temperature sensitive allelic combination gbb4/gbbD4 and are shifted to 29oC (the non-permissive temperature) for 10 days, the majority of germaria disintegrate. Among remaining germaria, less than half contain follicle cells but all contain terminal filament cells. In identical experiments using gbb4/gbbD20, no follicle cells remain, although the resulting germaria do contain terminal filament cells.
The addition of gbb4 to cv-2225-3/cv-2k03511 animals produces an enhancement of the posterior crossvein phenotype seen in these flies.
The homozygous gbb4 phenotype is enhanced by dppd5; gbb4 dppd5; gbb4 + flies show a significant loss of wing vein L4 and a more frequent loss of the anterior crossvein than gbb4 +; gbb4 + flies. The gbb4/gbb4 and gbb1/gbb4 phenotypes are dominantly enhanced by dppd12; there is a greater loss of wing vein L4, wing vein L2 and the anterior crossvein than in gbb single mutant flies. There is also loss of intervein tissue, especially between veins L2 and L3 and between veins L4 and L5, resulting in a reduction in the size of the wing. A gap at the distal end of vein L3 is seen in 3% of cases. A reduction in the loss of wing vein L5 is seen in these flies. Viability is reduced. gbb1 dppd12/gbb4 + flies show truncations and/or fusions of the distal-most tarsal segments of the male prothoracic leg. Addition of Df(2L)tkv2 into gbb1/gbb4 flies results in a more severe wing phenotype but less severe lethality. The viability of gbb1/gbb4 flies is dominantly reduced by sax4 or sax5.
The loss of posterior crossvein seen in gbb4/Dp(2;2)DTD48 gbb4 flies is completely rescued by expression of either Hsap\BMP7gbb.PF or gbb::Hsap\BMP7BMP7LD.gbb, but is not rescued by expression of Hsap\BMP7R292G.gbb.
Agam\gbb1gbb.PF and Agam\gbb2gbb.PF each completely rescue the wing vein defects of gbb1/gbb4 animals.
Agam\gbb1gbb.PF and Agam\gbb2gbb.PF each partially rescue the wing vein defects of gbb1/gbb4 animals in a sax1/sax2 background; partial rescue of the posterior crossvein is seen and in addition loss of the distal tips of vein L5 and loss of the distal quarter of vein L4 are seen.
gbb4 is rescued by Scer\GAL4VP16.nanos.UTR/gbbUAS.cKa
gbb4/gbb1 is partially rescued by Scer\GAL4how-24B/gbbUAS.cKa
gbb4/gbb1 is partially rescued by gbbUAS.cKa/Scer\GAL4hs.PB
Induced with: a second site lethal mutation that has subsequently been removed by recombination.
Hemizygotes over Df(2R)b23 show a more severe phenotype than homozygotes. The gbb alleles fall into a phenotypic series. Starting with the most severe alleles: gbb1 = gbb2 > gbb3 > gbb4.