FlyBase Allele Report: Dmel\hbs[2593]

General Information

Symbol

Dmel\hbs²⁵⁹³

Species

D. melanogaster

Name

FlyBase ID

FBal0130218

Feature type

allele

Associated gene

Dmel\hbs

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Artero et al., 2001)

Progenitor genotype

Cytology

Description

Nucleotide substitution: T?A. A T to A transversion has occurred in the second nucleotide of the intron between exons 9 and 10. This leads to an aberrantly spliced transcript that retains the whole intron and would result in a prematurely truncated protein.

(Artero et al., 2001)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:15,039,153..15,039,153 [+]

Nucleotide change:

T15039153A

Reported nucleotide change:

T?A

Comment:

T to A transversion in the splice acceptor results in a retained intron and early translation termination.

(Artero et al., 2001)

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 nephrotic syndrome type 1

CEA with sns^XB3

(Zhuang 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

visible (with hbs¹)

(Grillo-Hill and Wolff, 2009)

visible (with hbs⁶⁶)

(Grillo-Hill and Wolff, 2009)

Phenotype Manifest In

embryonic midgut chamber 1 (with Df(2R)X28)

(Artero et al., 2001)

embryonic midgut chamber 1 (with hbs⁴⁵⁹)

(Artero et al., 2001)

embryonic myoblast (with Df(2R)X28)

(Artero et al., 2001)

embryonic myoblast (with hbs⁴⁵⁹)

(Shelton et al., 2009, Artero et al., 2001)

eye (with hbs¹)

(Grillo-Hill and Wolff, 2009)

eye (with hbs⁶⁶)

(Grillo-Hill and Wolff, 2009)

photoreceptor cell R8 (with hbs⁶⁶)

(Tan et al., 2020)

photoreceptor cell R8 (with hbs³⁶¹)

(Tan et al., 2020)

photoreceptor cell R8 (with hbs⁴⁵⁹)

(Tan et al., 2020)

photoreceptor cell R8 (with hbs¹¹³⁰)

(Tan et al., 2020)

photoreceptor cell R8 (with hbs^a69)

(Tan et al., 2020)

presumptive embryonic/larval muscle system (with Df(2R)X28)

(Artero et al., 2001)

presumptive embryonic/larval muscle system (with hbs⁴⁵⁹)

(Artero et al., 2001)

visceral muscle primordium (with Df(2R)X28)

(Artero et al., 2001)

visceral muscle primordium (with hbs⁴⁵⁹)

(Artero et al., 2001)

Detailed Description

Statement

Reference

hbs²⁵⁹³/hbs^a69, hbs²⁵⁹³/hbs⁶⁶, hbs²⁵⁹³/hbs³⁶¹, hbs²⁵⁹³/hbs⁴⁵⁹ or hbs²⁵⁹³/hbs¹¹³⁰ eyes exhibit reduced number of Rh5 expressing R8 cells.

(Tan et al., 2020)

hbs⁶⁶/hbs²⁵⁹³ and hbs¹/hbs²⁵⁹³ adults have rough eyes.

(Grillo-Hill and Wolff, 2009)

hbs²⁵⁹³/hbs⁴⁵⁹ embryos exhibit a limited number of unfused myoblasts.

(Shelton et al., 2009)

Stage 12 hbs²⁵⁹³/Df(2R)X28 or hbs⁴⁵⁹/hbs²⁵⁹³ embryos have a reduction in the number of visceral muscle progenitors. hbs²⁵⁹³/Df(2R)X28, or hbs⁴⁵⁹/hbs²⁵⁹³ embryos The overall pattern or somatic muscles is normal, though there is a partial fusion block in embryos (especially around the heart). The unfused myoblasts can still extend filopodia. Mutant embryos also show a gut phenotype consisting of an enlarged first gut chamber, which pushes the dorsal muscles and heart upwards.

(Artero et al., 2001)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Enhanced by

Statement

Reference

hbs⁴⁵⁹/hbs²⁵⁹³ has embryonic myoblast phenotype, enhanceable by sns[+]/sns^XB3

(Shelton et al., 2009)

hbs⁴⁵⁹/hbs²⁵⁹³ has embryonic myoblast phenotype, enhanceable by sns[+]/sns^D1

(Shelton et al., 2009)

Suppressed by

Statement

Reference

hbs⁴⁵⁹/hbs²⁵⁹³ has embryonic myoblast phenotype, suppressible by sns^XB3

(Artero et al., 2001)

hbs⁴⁵⁹/hbs²⁵⁹³ has embryonic midgut chamber 1 phenotype, suppressible by sns^XB3

(Artero et al., 2001)

hbs⁴⁵⁹/hbs²⁵⁹³ has visceral muscle primordium phenotype, suppressible by sns^XB3

(Artero et al., 2001)

hbs⁴⁵⁹/hbs²⁵⁹³ has presumptive embryonic/larval muscle system phenotype, suppressible by sns^XB3

(Artero et al., 2001)

NOT suppressed by

Statement

Reference

hbs²⁵⁹³, sns^XB3 has muscle founder cell | embryonic stage phenotype, non-suppressible by Scer\GAL4^Mef2.PR/sns^{20-5.UAS.Tag:HA}

(Shelton et al., 2009)

hbs²⁵⁹³, sns^XB3 has muscle founder cell | embryonic stage phenotype, non-suppressible by hbs^{ΔICD.UAS.Tag:HA}/Scer\GAL4^Mef2.PR

(Shelton et al., 2009)

Enhancer of

Statement

Reference

hbs²⁵⁹³ is an enhancer of muscle founder cell | embryonic stage phenotype of sns^XB3

(Shelton et al., 2009)

hbs²⁵⁹³/hbs[+] is an enhancer of interommatidial precursor cell | pupal stage P7 phenotype of rst⁶

(Bao and Cagan, 2005)

Other

Statement

Reference

hbs⁴⁵⁹/hbs²⁵⁹³, sns^XB3/sns^D1 has muscle founder cell | embryonic stage phenotype

(Shelton et al., 2009)

hbs²⁵⁹³, sns^XB3 has embryonic garland cell phenotype

(Zhuang et al., 2009)

hbs²⁵⁹³/hbs[+], rst⁶ has interommatidial bristle | pupal stage P7 phenotype

(Bao and Cagan, 2005)

hbs²⁵⁹³, sns^XB3 has muscle cell of A1-7 dorsal acute muscle 1 | embryonic stage 15 phenotype

(Menon et al., 2005)

Additional Comments

Genetic Interactions

Statement

Reference

There is a lower number of eve-expressing DA1 founder cells, Kr-expressing DO1 founder cells, and nau-expressing VA1 founder cells in sns^XB3 hbs²⁵⁹³ double mutant embryos than in sns^XB3 embryos - these founder cells remain mononucleate in most hemi-segments.

sns^XB3, hbs²⁵⁹³ / sns^D1, hbs⁴⁵⁹ embryos have a relatively low number of eve-expressing DA1 founder cells - fewer than in sns^XB3 embryos.

The limited number of unfused myoblasts in hbs²⁵⁹³/hbs⁴⁵⁹ embryos increases when embryos are also heterozygous for sns^XB3 or sns^D1.

Scer\GAL4^Mef2.PR-mediated expression of sns^{20-5.Scer\UAS.T:Ivir\HA1} or hbs^{ΔICD.Scer\UAS.T:Ivir\HA1} fails to rescue formation of eve-positive DA1 or Kr-positive DO1 bi- and tri-nucleate muscle precursors in sns^XB3, hbs²⁵⁹³ double mutant embryos.

(Shelton et al., 2009)

Almost 60% of garland cell nephrocytes (GCNs) remain mononucleate at early stage 16 in sns^XB3 hbs²⁵⁹³ double mutant embryos (in contrast to wild-type embryos where 99.6% of the GCNs are binucleate at this stage). The GCNs of stage 16 sns^XB3 hbs²⁵⁹³ double mutant embryos are disorganised, misshapen and more loosely associated than in wild-type embryos.

(Zhuang et al., 2009)

The extent of myoblast fusion in hbs²⁵⁹³; sns^XB3 embryos is significantly reduced compared to wild type.

(Menon et al., 2005)

Both the gut and the somatic mesoderm phenotypers seen in hbs⁴⁵⁹/hbs²⁵⁹³ embryos are suppressed by the addition of sns^XB3.

(Artero et al., 2001)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

hbs²⁵⁹³

(Tan et al., 2020, Grillo-Hill and Wolff, 2009, Shelton et al., 2009, Zhuang et al., 2009, Menon et al., 2005)

hibris²⁵⁹³

(Bao and Cagan, 2005)

Name Synonyms

Secondary FlyBase IDs

References (7)

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