FlyBase Allele Report: Dmel\awd[j2A4]

(Adamson and Lajeunesse, 2012, Mortimer and Moberg, 2007, Dammai et al., 2003, Krishnan et al., 2001, Spradling et al., 1999, BDGP Project Members, 1994-1999)

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 ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

ameliorates viral infectious disease

modeled by EBV\BRLF1^GMR.PA

(Adamson and Lajeunesse, 2012)

ameliorates infectious mononucleosis

modeled by EBV\BRLF1^GMR.PA

(Adamson and Lajeunesse, 2012)

ameliorates Epstein-Barr virus hepatitis

modeled by EBV\BRLF1^GMR.PA

(Adamson and Lajeunesse, 2012)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

lethal | recessive

(Hsouna et al., 2010, Krishnan et al., 2001, Spradling et al., 1999, BDGP Project Members, 1994-1999)

Phenotype Manifest In

dorsal group tracheal branch precursor

(Dammai et al., 2003)

embryonic/larval tracheal dorsal trunk

(Hsouna et al., 2010)

embryonic/larval tracheal system

(Hsouna et al., 2010, Hsouna et al., 2007)

embryonic dorsal group branch & filopodium

(Dammai et al., 2003)

follicle cell | somatic clone

(Woolworth et al., 2009)

presumptive embryonic/larval tracheal system

(Dammai et al., 2003)

tracheal dorsal trunk primordium

(Dammai et al., 2003)

Detailed Description

Statement

Reference

Homozygous embryos show tracheal defects including ectopic branches. Abnormal sprouting of filopodium-like projections can be seen in some cells.

Tracheal cells of heterozygotes show moderate ectopic migration defects in 71% of embryos, and show severe ectopic migration defects in 10% of embryos.

Mutant embryos have tracheal lumen defects, with a dilated dorsal trunk and ectopic, tortuous tracheal branches.

(Hsouna et al., 2010)

Homozygous follicle cell clones show defects in epithelial integrity, with the severity of the defect depending on the size of the clone. Cells in smaller clones become flattened but remain adhered to their neighbours. As the clone size increases, gaps in the epithelium and adenoma-like piling up of epithelial cells becomes more common. In the most severe cases, large regions of the epithelium become composed of multiple cell layers and invade deep into the germ cell complex.

(Woolworth et al., 2009)

Homozygous embryos show ectopic branching in the tracheal network.

81% of heterozygous embryos show ectopic tracheal migration.

(Hsouna et al., 2007)

awd^j2A4 homozygous embryos exhibit major disruption of the tracheal network accompanied by ectopic branching and looping, appearance of a few extra branches or "knobs", and migration abnormalities. By stage 16 in the most severely effected embryos, fragments of the dorsal trunks are scattered throughout the embryo with random, ectopic branches sprouting out. (Note patterning of other late embryonic structures such as midgut are appears normal.). awd^j2A4 heterozygous embryos have similar but milder tracheal phenotypes: Segments of dorsal trunk are often mis-positioned and sprout ectopic projections. In addition the dorsal trunks may be fused at the stalk. The fusion is usually accompanied by thickening at the base. In other instances, dorsal branches from adjacent subunits are linked, rather than connecting with their counterparts across the embryonic midline. During the tubule migration phase of tracheal development, the tips of migrating forsal branches in these embryos extend many more stable filopodia like projections than wild-type. These extensions often do not point in the direction of the wild-type migratory path.

(Dammai et al., 2003)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Enhanced by

Statement

Reference

awd^j2A4 has embryonic/larval tracheal system phenotype, enhanceable by Pu[+]/Pu^rAA17

(Hsouna et al., 2007)

awd^j2A4 has embryonic/larval tracheal system phenotype, enhanceable by Pu[+]/Pu^Z22

(Hsouna et al., 2007)

awd^j2A4 has presumptive embryonic/larval tracheal system phenotype, enhanceable by btl^{UAS.GFP(S65T)}/Scer\GAL4^btl.PS

(Dammai et al., 2003)

Suppressed by

Statement

Reference

awd^j2A4 has embryonic/larval tracheal system phenotype, suppressible by Catsup[+]/Catsup²⁶

(Hsouna et al., 2007)

awd^j2A4 has presumptive embryonic/larval tracheal system phenotype, suppressible by btl^H82Δ3/btl[+]

(Dammai et al., 2003)

Enhancer of

Statement

Reference

awd^j2A4/awd[+] is an enhancer of embryonic/larval tracheal system phenotype of Pu^rAA17

(Hsouna et al., 2007)

awd^j2A4/awd[+] is an enhancer of embryonic/larval tracheal system phenotype of Pu^Z22

(Hsouna et al., 2007)

awd^j2A4/awd[+] is an enhancer of embryonic/larval tracheal system phenotype of ago³/ago¹

(Mortimer and Moberg, 2007)

awd^j2A4/awd[+] is an enhancer of embryonic/larval tracheal dorsal trunk phenotype of ago³/ago¹

(Mortimer and Moberg, 2007)

awd^j2A4/awd[+] is an enhancer of tracheal dorsal trunk primordium | heat sensitive phenotype of shi¹

(Dammai et al., 2003)

awd^j2A4/awd[+] is an enhancer of presumptive embryonic/larval tracheal system | heat sensitive phenotype of shi¹

(Dammai et al., 2003)

Suppressor of

Statement

Reference

awd^j2A4 is a suppressor of eye phenotype of EBV\BRLF1^GMR.PA

(Adamson and Lajeunesse, 2012)

awd^j2A4/awd[+] is a suppressor | partially of embryonic/larval tracheal system phenotype of Catsup²⁶

(Hsouna et al., 2007)

awd^j2A4/awd[+] is a suppressor of presumptive embryonic/larval tracheal system phenotype of btl^H82Δ3

(Dammai et al., 2003)

Other

Statement

Reference

Vhl[+]/Vhl¹, awd^j2A4 has embryonic/larval tracheal system phenotype

(Hsouna et al., 2010)

Additional Comments

Genetic Interactions

Statement

Reference

Vhl¹/+ ; awd^j2A4/+ double heterozygous embryos have a severely disrupted tracheal tree with ectopic filopodia and isolated, round cells.

(Hsouna et al., 2010)

The penetrance and severity of the ectopic tracheal migration phenotype is increased in Pu^rAA17 awd^j2A4 double heterozygous embryos compared to either single heterozygote.

The opposing tracheal phenotypes of awd^j2A4/+ and Catsup²⁶/+ single heterozygous embryos (ectopic migration and lack of migration respectively) are both partially suppressed in awd^j2A4/+ Catsup²⁶/+ double heterozygous embryos.

The penetrance and severity of the ectopic tracheal migration phenotype is increased in Pu^Z22/+ awd^j2A4 double mutant embryos compared to either single mutant.

(Hsouna et al., 2007)

A awd^j2A4 heterozygous background strongly enhances both the penetrance (from 46% of embryos to greater than 80% of embryos) of the ago¹/ago³ mutant dorsal trunk phenotype and its expressivity among affected embryos. These embryos also show a much more severe disruption of the entire tracheal system compared to ago¹/ago³ mutants.

(Mortimer and Moberg, 2007)

68.8% of btl^H82Δ3/+; awd^j2A4/+ transheterozygous embryos have normal tracheal systems, compared to 33.3% in awd^j2A4/+ embryos. 17.5% of these transheterozygotes have tracheal phenotypes resembling those seen in 66.7% of awd^j2A4/+ embryos, with the remainder having tracheal phenotypes resembling those seen in btl^H82Δ3/+. The tracheal system phenotypes of shi¹ homozygous embryos (collected at the permissive temperature (25^oC) for 7 h and then shifted to 34^oC for another 7 hours) are dominantly enhanced by awd^j2A4 : the penetrance of the most severe phenotypic class is increased from 1.2% to 33.2% by the presence of awd^j2A4/+. (Note, these sever phenotypes are never observed in awd^j2A4/+ embryos raised under the same conditions). The relatively mild tracheal phenotypes seen in awd^j2A4/+ embryos are enhanced by btl^{Scer\UAS.T:Avic\GFP-S65T} with Scer\GAL4^btl.PS so that 20% have tracheal phenotypes as severe as the majority awd^j2A4 homozygotes compared to none with awd^j2A4/+ alone.