A Database of Drosophila Genes & Genomes

FB2013_03, released May 7th, 2013
 

Allele Dmel\fbl1

General Information
SymbolDmel\fbl1SpeciesD. melanogaster
NameFlyBase IDFBal0028192
Feature typealleleAssociated geneDmel\fbl
Also Known AsdPANK1
Map ( GBrowse ) Untitled Document detailed view FBti0003495 FBti0072199 FBti0075027 FBti0043260 FBti0066970 FBti0052128 FBti0145315
Allele classhypomorphic allele - genetic evidence
MutagenP-element activity
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Description
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FB2013_03
FB2013_02
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hide Nature of the Allele
Allele class
Mutagen
Mutations Mapped to the Genome
Type
Location
Additional Notes
References
Associated Sequence Data
DDBJ /
EMBL /
GenBank
DNA sequence
Protein sequence
Name
 
UniProtKB/Swiss-Prot
UniProtKB/TrEMBL
Progenitor genotype
Nature of the lesion
Statement
Reference
 
 
Caused by insertion
Cytology
hide Phenotypic Data
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hide Phenotype Manifest In
spermatid & nucleus
spermatocyte & aster (with fbl2)
spermatocyte & aster (with fbl3)
spermatocyte & centrosome
spermatocyte & spindle
spermatocyte & spindle (with fbl2)
spermatocyte & spindle (with fbl3)
hide Detailed Description
Statement
Reference
fbl[1] heterozygotes show a significant threefold increase in total Zn levels. Under normal diet conditions approximately 55% of expected homozygous fbl[1] are found, suggesting that one third of homozygous fbl[1] larvae fail to initiate metamorphosis. The addition of 5mM ZnCl[[2]] to the diet of fbl[1]/+ flies results in a 40% increase in total zinc levels compared to controls with no Zn supplement. Controls with a 5mM ZnCl[[2]] supplemented diet exhibit a 55% increase in total Zn levels. A significant drop in expected fbl[1] homozygous pupae is observed when they are raised on high Zn (43% of expected), suggesting that Zn has a negative impact on larval development of fbl[1] homozygotes. The addition of 100υM TPEN to the diet of fbl[1] homozygous larvae does not significantly ameliorate their survival, despite reducing to less than half the levels of total Zn in adult fbl[1] heterozygous flies. fbl[1] heterozygotes show no change in iron, manganese or copper levels.
fbl[1] mutants die during the pupal stage with a few escapers managing to eclose and survive several days. Rare survivors exhibit impaired locomotion ability, infertility, and neurodegeneration in the brain and retina. Brain and retinal tissues display large vacuoles. The female ovary is dramatically reduced in size, and no mature sperm is evident in the male testis. In fbl[1] males, Nebenkern spermatids carry large Nebenkern and micronuclei at onion stage.
Homozygous larvae show severely impaired locomotor activity (crawling) compared to controls.
7 day old homozygous flies show severe defects in flight ability and in the ability to climb in a negative geotaxis assay. Homozygous flies have a reduced median lifespan (8 days) compared to control flies (50 days). Homozygous flies often have held-out or (less frequently) held-up wings. The brains of 14 day old homozygous adults contain vacuoles, suggesting neurodegeneration. The level of triglycerides is reduced approximately 25% in 5 day old homozygous adults compared to controls. Homozygous adults show a mild-sensitivity to H[[2]]O added to the medium under "wet starvation conditions". Homozygous adults show increased sensitivity to 5% H[[2]]O[[2]], 100mM dithiothreitol and 20mM paraquat compared to control adults. Homozygous larvae show reduced survival on medium containing 100mM cysteine compared to control larvae. Homozygous third larval instar brains show a high incidence of abnormal mitotic chromosomes compared to controls. Treatment with 20 Gy irradiation results in an increased incidence of abnormal mitotic chromosomes in homozygous third larval instar brains compared to controls. Homozygous larval brains show an increased level of apoptosis compared to controls. The survival rate of adults after exposure of larvae to 20Gy irradiation is reduced in homozygotes compared to wild-type flies.
Homozygous females do not deposit eggs. Homozygous ovaries dissected 48 hours after eclosion are poorly developed and do not contain eggs. Five day old homozygous ovaries contain eggs, which are small, ball-shaped and contain short dorsal appendages. Production of neutral lipids is hardly detected in homozygous egg chambers. Anterior cross vein and posterior cross vein formation is incomplete in homozygous wings, and mispositioned cross veins are found between veins L2 and L3. Ectopic macrochaetae on the scutellum are not formed in homozygous flies.
fbl1 males show defects in chromosome segregation and cytokinesis in the male germline. Homozygous females are uncoordinated. Approximately 10% of testis cysts in homozygous males contain spermatids with mitochondrial aggregates of abnormal size and shape and multinucleate nuclei of different size. Approximately 10% of homozygous primary spermatocytes have abnormal spindles at prometaphase or metaphase, having asymmetric and/or apolar microtubule structures and lacking actin structures. There is also a failure in centrosomal separation. Chromosomes are associated with only one half of the spindle in some spermatocytes. In some cases the actin contractile ring forms around the chromosomes at the midbody, indicating a defect in the timing of contractile ring formation or in chromosome segregation. At late telophase, cells containing two or more actin rings and associated cleavage furrows situated between distinct masses of chromosomes are seen, suggesting unequal partitioning of chromosomal masses and cytoplasm. 90% of spermatids in fbl1/fbl2 males undergo aberrant cell division and spermiogenesis (postmeiotic spermatid differentiation) is grossly defective. 80% of fbl1/fbl2 or fbl1/fbl3 primary spermatocytes have spindle abnormalities, with the majority of spindles being multipolar. Anaphase and telophase stages are difficult to define in these testes, due to the severe defects in metaphase spindle organisation. In some less severely affected cells, two asters are seen at a single pole. Despite this lack of aster separation, these cells contain a contractile ring positioned over a central spindle.
Spermatids have large nebenkern and micronuclei at onion stage. Hemizygotes have degenerating spermatocytes. Testes are short and nearly devoid of germinal content.
Spermatids with large Nebenkern and micronuclei at onion stage. Hemizygotes with deletion contain degenerating spermatocytes.
 
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Statement
Reference
hideNOT suppressed by
Statement
Reference
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Statement
Reference
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hideSuppressed by
Statement
Reference
hideNOT suppressed by
Statement
Reference
hideEnhancer of
Statement
Reference
fbl[+]/fbl1 is an enhancer | male limited of wing margin phenotype of Bx2
hideNOT Enhancer of
Statement
Reference
fbl[+]/fbl1 is a non-enhancer of scutellar bristle | supernumerary phenotype of Chie5.5
fbl[+]/fbl1 is a non-enhancer of scutellar bristle | supernumerary phenotype of SsdpL7
hideNOT Suppressor of
Statement
Reference
fbl[+]/fbl1 is a non-suppressor of scutellar bristle | supernumerary phenotype of Chie5.5
fbl[+]/fbl1 is a non-suppressor of scutellar bristle | supernumerary phenotype of SsdpL7
hide Additional Comments
hide Genetic Interactions
Statement
Reference
Simultaneous co-expression of Sod[+t2.4], Cat[tOa] and Trxr-1[+t10] restores survival of fbl[1]/fbl[1] larvae on medium containing 100mM cysteine to wild-type levels.
hide Xenogenetic Interactions
Statement
Reference
Expression of Hsap\PANK2[m.Scer\UAS] under the control of Scer\GAL4[Act.PU] in a fbl[1] mutant background rescues the eclosion defects of fbl[1] flies, and the lifespan of these animals recovers to almost normal levels. Locomotor defects and infertility are also rescued in these animals. Retinal and brain morphology is normal in these animals at 12 days and 30 days old. Expression of Hsap\PANK2[c.Scer\UAS] under the control of Scer\GAL4[Act.PU] does not rescue eclosion rate, lifespan, locomotion ability, and fertility defects of fbl[1] mutant flies. Expression of Hsap\PANK2[T418M.Scer\UAS] or Hsap\PANK2[S241P.Scer\UAS] under the control of Scer\GAL4[Act.PU] in a fbl[1] mutant background dramatically increased the eclosion rate. Ectopic expression of either line partially suppresses the impaired locomotion phenotype and short lifespan of fbl[1] mutant flies. Female fertility is restored in these animals but males are sterile and display abnormal spermatogenesis. Expression of Hsap\PANK2[G411R.Scer\UAS] under the control of Scer\GAL4[Act.PU] does not alter eclosion rate of fbl[1] mutant flies, and does not increase lifespan or improve locomotion ability of fbl[1] mutant flies. Males are sterile and show abnormal spermatogenesis. Expression of Hsap\PANK2[T418M.Scer\UAS] under the control of Scer\GAL4[Act.PU] in a fbl[1] mutant background results in a neurodegeneration phenotype. Adult brain and retinal tissue display large vacuoles at 12 days old. Expression of Hsap\PANK2[S241P.Scer\UAS] or Hsap\PANK2[G411R.Scer\UAS] under the control of Scer\GAL4[Act.PU] in a fbl[1] mutant background results in a neurodegeneration phenotype, with large vacuoles present in both tissues at 30 days post-eclosion. Expression of Hsap\PANK3[Scer\UAS.cWa] or Hsap\PANK4[Scer\UAS.cWa] under the control of Scer\GAL4[Act.PU] in a fbl[1] mutant background dramatically increases the eclosion rate of fbl[1] mutant flies, and the lifespan of these animals is much increased. Flies display normal climbing behaviour when young, however the climbing ability of these animals is less than 50% of control levels at 30 days. Female fertility is restored in these animals but male sterility is not restored.
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Fails to complement
Rescued by
Partially rescued by
Not rescued by
Comments
Expression of fbl[L.Scer\UAS] under the control of Scer\GAL4[Act.PU] rescues the eclosion defects of fbl[1] flies, and the lifespan of these animals recovers to almost normal levels. Locomotor and infertility defects are also rescued in these animals. Expression of fbl[S1.Scer\UAS] or fbl[S2.Scer\UAS] under the control of Scer\GAL4[Act.PU] in a fbl[1] mutant background does not rescue the lethality, shortened lifespan, locomotion behaviour, or infertility defects observed in fbl[1] mutants. Expression of fbl[L.Scer\UAS] under the control of Scer\GAL4[elav.PU] in a fbl[1] mutant background rescues the eclosion defects, shortened lifespan and movement coordination defects of fbl[1] flies, but does not rescue infertility. Expression of fbl[L.Scer\UAS] in dopaminergic neurons under the control of Scer\GAL4[Ddc.PL] partially rescues the eclosion rate, shortened lifespan, and locomotor defects of fbl[1] mutant flies. Expression of fbl[L.Scer\UAS] in cholinergic neurons under the control of Scer\GAL4[Cha.7.4] partially rescues the eclosion rate, shortened lifespan, and locomotor defects of fbl[1] mutant flies.
hide Stocks ( 2 )
Bloomington
Kyoto
hide Notes on Origin
Discoverer
The kug[fbl1] lesion was identified as a second hit on the fbl[1] chromosome.
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Other Crossreferences
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hide Synonyms & Secondary IDs ( 5 )
Reported As
Symbol Synonym
fbl00414
 
Name Synonym
Secondary FlyBase IDs
hide References ( 16 )
Research paper
Horne-Badovinac et al., 2012, G3 (Bethesda) 2(3): 371--378
A screen for round egg mutants in Drosophila identifies tricornered, furry, and misshapen as regulators of egg chamber elongation. [FBrf0217749]
Bronstein et al., 2010, PLoS Genet. 6(8): e1001063
Transcriptional regulation by CHIP/LDB complexes. [FBrf0211594]
Gutiérrez et al., 2010, FEBS Lett. 584(13): 2942--2946
Zinc accumulation in heterozygous mutants of fumble, the pantothenate kinase homologue of Drosophila. [FBrf0211028]
Wu et al., 2009, Hum. Mol. Genet. 18(19): 3659--3672
Pantothenate kinase-associated neurodegeneration: insights from a Drosophila model. [FBrf0209004]
Bosveld et al., 2008, Hum. Mol. Genet. 17(13): 2058--2069
De novo CoA biosynthesis is required to maintain DNA integrity during development of the Drosophila nervous system. [FBrf0205456]
Afshar et al., 2001, Genetics 157(3): 1267--1276
fumble encodes a pantothenate kinase homolog required for proper mitosis and meiosis in Drosophila melanogaster. [FBrf0134646]
Spradling et al., 1999, Genetics 153(1): 135--177
The Berkeley Drosophila genome project gene disruption project. Single P-element insertions mutating 25% of vital Drosophila genes. [FBrf0111489]
Castrillon et al., 1993, Genetics 135(2): 489--505
Toward a molecular genetic analysis of spermatogenesis in Drosophila melanogaster: characterization of male-sterile mutants generated by single P element mutagenesis. [FBrf0064394]
Supplementary material
Bosveld et al., 2008, Hum. Mol. Genet. 17(13):
Supplementary Data. [FBrf0208509]
Bosveld et al., 2008, BMC Res. Notes 1:
Additional file 1. [FBrf0208531]
Personal communication to FlyBase
Christensen et al., 2009.2.28, Isolation and characterization of Df(3L)BSC734.
Isolation and characterization of Df(3L)BSC734. [FBrf0207616]
Christensen et al., 2009.7.22, Isolation and characterization of Df(3L)BSC839.
Isolation and characterization of Df(3L)BSC839. [FBrf0208339]
Christensen et al., 2008.4.15, Isolation and characterization of Df(3L)BSC447.
Isolation and characterization of Df(3L)BSC447. [FBrf0204482]
Beaton, 1999.12.12, Alleles of the lines in the P-element paper.
Alleles of the lines in the P-element paper. [FBrf0125032]
Meister and Braun, 1995.10, lacZ expression patterns for P{} insertions at Bloomington.
lacZ expression patterns for P{} insertions at Bloomington. [FBrf0083714]
BDGP Project Members, 1994-1999, BDGP Project Members, 1994-1999, Berkeley Drosophila Genome Project. (Computer file)
BDGP Project Members, 1994-1999, Berkeley Drosophila Genome Project. (Computer file) [FBrf0067338]