A Database of Drosophila Genes & Genomes

FB2013_03, released May 7th, 2013
 

Allele Dmel\SmnB

General Information
SymbolDmel\SmnBSpeciesD. melanogaster
NameFlyBase IDFBal0181513
Feature typealleleAssociated geneDmel\Smn
Map ( GBrowse ) GBrowse View Helpdetailed view FBal0092881 FBal0181513
Allele classamorphic allele - genetic evidence
Mutagenethyl methanesulfonate
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Description
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FB2013_03
FB2013_02
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Allele class
Mutagen
Mutations Mapped to the Genome
Type
Location
Additional Notes
References
point mutation
comment=Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.
evidence=experimental
na_change=C16573681T
pr_change=S201F|Smn-PA
reported_pr_change=S201F
Associated Sequence Data
DDBJ /
EMBL /
GenBank
DNA sequence
Protein sequence
Name
 
UniProtKB/Swiss-Prot
UniProtKB/TrEMBL
Progenitor genotype
Nature of the lesion
Statement
Reference
Amino acid replacement: 201F.
Cytology
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Statement
Reference
Approximately one-third of homozygous larvae survive beyond day 8 after egg laying, a period when the control larvae have already pupated. Some of these animals form pseudopupae before dying. Homozygous second-third instar larvae show impaired motor function, showing a smaller distance travelled in the 20 seconds after movement was stimulated with a needle than control larvae.
Homozygotes die as late larvae.
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Statement
Reference
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Statement
Reference
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Fails to complement
Rescued by
Comments
The lethality of Smn[B] is rescued by expression of Smn[Scer\UAS.T:Avic\GFP-YFP.Venus] under the control of Scer\GAL4[da.G32].
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Reported As
Symbol Synonym
Name Synonym
Secondary FlyBase IDs
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Research paper
Shpargel et al., 2009, Mol. Biol. Cell 20(1): 90--101
Gemin3 is an essential gene required for larval motor function and pupation in Drosophila. [FBrf0206864]
Rajendra et al., 2007, J. Cell Biol. 176(6): 831--841
A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle. [FBrf0194681]
Chan et al., 2003, Hum. Mol. Genet. 12(12): 1367--1376
Neuromuscular defects in a Drosophila survival motor neuron gene mutant. [FBrf0160443]