FlyBase Allele Report: Dmel\Smn[B]

General Information

Symbol

Dmel\Smn^B

Species

D. melanogaster

Name

FlyBase ID

FBal0181513

Feature type

allele

Associated gene

Dmel\Smn

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Rajendra et al., 2007)

Mutagen

ethyl methanesulfonate

(Chan et al., 2003)

Progenitor genotype

Cytology

Description

Amino acid replacement: 201F.

(Chan et al., 2003)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3L:16,580,581..16,580,581 [-]

Nucleotide change:

C16580581T

Amino acid change:

S201F | Smn-PA; S201F | Smn-PB

Reported amino acid change:

S201F

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Chan et al., 2003)

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Expression Data

Reporter Expression

Additional Information

Statement

Reference

Marker for

Reflects expression of

Reporter construct used in assay

Human Disease Associations

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 1 )

Disease

Evidence

References

model of childhood spinal muscular atrophy

CEA

(Gupta et al., 2021, Shpargel et al., 2009)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior | larval stage

(Shpargel et al., 2009)

lethal - all die before end of larval stage

(Gupta et al., 2021)

lethal - all die before end of larval stage | recessive

(Shpargel et al., 2009, Chan et al., 2003)

some die during larval stage | recessive

(Shpargel et al., 2009, Chan et al., 2003)

Phenotype Manifest In

Detailed Description

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.

(Shpargel et al., 2009)

Homozygotes die as late larvae.

(Chan et al., 2003)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

Smn^73Ao

(Chan et al., 2003)

Rescued by

Smn^B is rescued by Smn^UASp.Venus/Scer\GAL4^da.G32

(Rajendra et al., 2007)

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.

(Rajendra et al., 2007)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

S201F

(Gupta et al., 2021)

Smn^B

(Shpargel et al., 2009, Rajendra et al., 2007)

smn^B

(Chan et al., 2003)

Name Synonyms

Secondary FlyBase IDs

References (4)

Report Sections

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