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General Information
Symbol
Dmel\Abl2
Species
D. melanogaster
Name
FlyBase ID
FBal0028709
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Mutagen
    Nature of the Allele
    Mutagen
    Mutations Mapped to the Genome
     
    Type
    Location
    Additional Notes
    References
    Nucleotide change:

    G16627706A

    Reported nucleotide change:

    G?A

    Amino acid change:

    W559term | Abl-PA; W577term | Abl-PB; W559term | Abl-PC; W577term | Abl-PD; W559term | Abl-PE; W577term | Abl-PF; W577term | Abl-PG; W559term | Abl-PH; W577term | Abl-PI; W559term | Abl-PJ

    Reported amino acid change:

    W559term

    Comment:

    TGG to TGA nonsense mutation in codon W559.

    Associated Sequence Data
    DNA sequence
    Protein sequence
     
     
    Progenitor genotype
    Cytology
    Nature of the lesion
    Statement
    Reference

    Nucleotide substitution: G?A.

    Amino acid replacement: W559term.

    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 ( 0 )
    Disease
    Interaction
    References
    Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
     
    Disease-implicated variant(s)
     
    Phenotypic Data
    Phenotypic Class
    Phenotype Manifest In
    Detailed Description
    Statement
    Reference

    Abl2 mutant embryos exhibit mild commissural defects.

    In Abl2 mutant embryos, RP2 motoneurons frequently stall prior to reaching their targets in the ventral body wall muscles (6,7, 12 and 13).

    Expression of AblN.Scer\UAS.T:Avic\GFP under the control of Scer\GAL4exex-Gal4 exacerbates the ISNb stalling phenotypes found in Abl2 mutant embryos.

    Abl mutant flies are fully viable and do not display and PCP defects.

    Approximately 9% of Abl2 mutant embryos display a duplication of the RP2 neuron in one hemisegment and have one missing in the contralateral segment. RP2 neurons in embryos mutant for the maternal as well as the zygotic Abl gene product (derived from females containing homozygous germline clones mated to homozygous males) fail to migrate completely, remaining in the location where the parent GMC-1 forms. This phenotype is almost fully penetrant.

    ISNb motor axons stall and fail to innervate their most distal target in 77% of hemisegments in Abl2/Abl4 embryos. These embryos also show a "stop short" phenotype in the dorsal branch of the SNa motor nerve, with the axons stopping short and failing to reach their muscle target.

    90% of Abl1/Abl2 embryos hatch.

    Abl2 homozygous embryos have intact commissures but show mild discontinuities in the longitudinal tracts.

    Instead of forming an even plexus of growth cones at the lamina, photoreceptor axons in Abl1/Abl2 larvae fasciculate aberrantly to produce an irregular pattern of gaps and thickenings in the lamina, with a significant percentage of axon bundles failing to terminate properly at the lamina.

    Whereas wild type and small Abl2 photoreceptor clones (generated via MARCM) exhibit normal axon targeting, large clones exhibit aberrant fasciculation and targeting to wild type brain tissue in third instar larvae. In contrast, wild type photoreceptor clones exhibit normal targeting to Abl2 brain tissue.

    The ladder-like neuronal tracts in the embryonic ventral ganglion are grossly normal in Abl2/Abl4 embryos.

    Homozygous embryos show axons ectopically crossing the midline. Mutant embryos occasionally show premature arrest of the ISNb axon, at either the muscle 6/7 or muscle 13 cleft.

    In homozygous Abl2 stage 16 embryos, several axon bundles cross the midline incorrectly. Only a few embryos heterozygous for Abl2 exhibit axons abnormally crossing the midline, but greater than 50% of homozygous embryos exhibit on average two abnormal crossovers.

    There are a few adult Abl2/Abl4 escapers that display a rough eye phenotype.

    Expression of two copies of AblKN.ftz in Abl2 mutants results in all embryos exhibiting several axon bundles crossing the midline incorrectly.

    Homozygous and Abl2/Abl4 embryos show ectopic crossing of the midline by axons in the central nervous system.

    ISNb growth cones fail to reach the distal target (muscle 12) in 24% of hemizygous embryos, although contacts with muscles 6,7 and 13 appear grossly normal. ISNb growth cones fail to reach the distal target (muscle 12) in 35% of Abl2/Abl4 embryos. Abl2/Abl4 embryos show mild defects in the Fas2-positive longitudinal fascicles of the central nervous system.

    Shows 29% viability when heterozygous with Df(3L)st-j7.

    l(2)gl4 Abl2 double mutants exhibit a deformed cephalopharyngeal skeleton, defective CNS, absence of the longitudinal tract and commissures. Presence of a wild type copy of ena allows partial restoration of the CNS phenotype.

    External Data
    Interactions
    Show genetic interaction network for Enhancers & Suppressors
    Phenotypic Class
    Enhanced by
    Statement
    Reference

    Abl2 has abnormal neuroanatomy | embryonic stage phenotype, enhanceable by eya[+]/eyaA188

    Abl2 has abnormal neuroanatomy phenotype, enhanceable by chb4

    Abl2 has abnormal neuroanatomy phenotype, enhanceable by chbP4

    Abl2/Df(3L)st-j7 has lethal phenotype, enhanceable by Nl1N-ts1

    Abl2 has lethal phenotype, enhanceable by prosm4

    Abl2 has lethal phenotype, enhanceable by NrtM2

    Abl2 has lethal phenotype, enhanceable by NrtM29

    NOT Enhanced by
    Statement
    Reference
    Suppressed by
    NOT suppressed by
    Enhancer of
    Statement
    Reference

    Abl2/Abl[+] is an enhancer of abnormal neuroanatomy phenotype of fra6/fra3

    Abl2 is an enhancer of abnormal neuroanatomy phenotype of chb4

    Abl2 is an enhancer of abnormal neuroanatomy phenotype of chbP4

    Abl2/Abl[+] is an enhancer of abnormal neuroanatomy phenotype of sli2

    Abl2/Abl[+] is an enhancer of abnormal neuroanatomy phenotype of robo24, robo1unspecified

    Abl2/Abl[+] is an enhancer of abnormal neuroanatomy phenotype of robo25, robo1unspecified

    Abl2/Abl[+] is an enhancer of abnormal neuroanatomy phenotype of robo31, robo1unspecified

    NOT Enhancer of
    Statement
    Reference
    Suppressor of
    Statement
    Reference

    Abl2, dshY473F.EGFP, Abl[+] is a suppressor | partially of lethal phenotype of dsh3

    Other
    Phenotype Manifest In
    Enhanced by
    Statement
    Reference
    NOT Enhanced by
    Suppressed by
    NOT suppressed by
    Enhancer of
    Statement
    Reference

    Abl2/Abl[+] is an enhancer of EW neuron phenotype of fra6/fra3

    Abl2/Abl[+] is an enhancer of symmetrical commissure phenotype of fra6/fra3

    Abl2 is an enhancer of embryonic/larval neuron phenotype of chbP4

    Abl2 is an enhancer of larval intersegmental nerve phenotype of chb4

    Abl2 is an enhancer of embryonic/larval neuron phenotype of chb4

    NOT Enhancer of
    Statement
    Reference
    Suppressor of
    Statement
    Reference
    Other
    Additional Comments
    Genetic Interactions
    Statement
    Reference

    A Abl2/+ heterozygous background increases the number of segments displaying EW axon midline crossing defects in Df(1)NetABΔ stage 15 embryos from approximately 40% to 45% of segments.

    Expression of a weak transgene of fraΔC.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4eg-Mz360 has no effect on the number and severity of midline crossing defects found in Abl2 homozygous mutants.

    Expression of AblR297K.Scer\UAS.T:Avic\GFP in the EW neurons of Abl2 mutant embryos fails to rescue the commissural defects found in Abl2 mutant embryos expressing fraΔC.Scer\UAS.T:Ivir\HA1.

    Expression of a weak transgene of fraΔC.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4eg-Mz360 has no effect on the number and severity of midline crossing defects found in Abl2 homozygous mutants. The presence of AblScer\UAS.T:Avic\GFP reduces the number of midline crossing defects (to a statistically significant level) in Abl2 homozygous mutants in a fraΔC.Scer\UAS.T:Ivir\HA1-expressing background. The presence of AblK417N.Scer\UAS.T:Avic\GFP reduces (although not to a statistically significant level) the number of midline crossing defects in Abl2 homozygous mutants in a fraΔC.Scer\UAS.T:Ivir\HA1-expressing background.

    Expression of AblΔFABD.Scer\UAS.T:Avic\GFP in EW neurons, under the control of Scer\GAL4eg-Mz360 fails to rescue EW midline-crossing defects in Abl2 neurons expressing fraΔC.Scer\UAS.T:Ivir\HA1.

    Expression of dshY473F.T:Avic\GFP-EGFP in a Abl2/+ mutant background partially rescues the lethality seen in dsh3. The PCP defects are not rescued.

    Abl2 HemJ4-48 double mutant embryos show a stronger RP2 neuron migration defect compared to either single mutant. Approximately 17% of embryos display a duplication of the RP2 neuron in one hemisegment and have one missing in the contralateral segment.

    The ISNb stall phenotype seen in Abl2/Abl4 embryos is not suppressed by expression of DabScer\UAS.cWa under the control of Scer\GAL4elav.PU.

    eyaA188/+ or eyaG130/+ reduces the hatch rate of Abl1/Abl2 embryos from 90% to 20%.

    Abl2, eyaA188/+ embryos have discontinuities along the longitudinal axon bundles with 20% of commissures lost or defective. Abl2, eyaA188 embryos show severe disruptions in the longitudinal tracts and 77% of commissures are lost.

    The embryonic CNS of eyaA188, Abl2/+ is indistinguishable from wild type.

    eyaA188/+ enhances the Abl1/Abl2 mistargeting phenotype, resulting in a highly disorganized lamina plexus.

    Scer\GAL4tub.PU-mediated expression of Dscam1miRNA.Scer\UAS.18 in a Abl2/Abl4 background causes commisureless phenotypes in the ladder-like neuronal tracts in 19% of embryonic ventral ganglion segments.

    Scer\GAL4tub.PU-mediated expression of Dscam1miRNA.Scer\UAS.19 in a Abl2/Abl4 background causes commisureless phenotypes in the ladder-like neuronal tracts in 9% of embryonic ventral ganglion segments.

    Scer\GAL4tub.PU-mediated expression of Dscam1miRNA.Scer\UAS.18-20 in a Abl2/Abl4 background causes commisureless phenotypes in the ladder-like neuronal tracts in 1% of embryonic ventral ganglion segments.

    An Abl2 heterozygous background enhances the patterning defects found in Scer\GAL4GMR.PF>cindrdsRNA.PC.PD.Scer\UAS mutants. The mean interommatidial precursor cell number and the number of cone and/or 1[o] cell errors is increased in these double mutants.

    The frequency of axons ectopically crossing the midline in chbP4 Abl2 double homozygous embryos is substantially increased compared to the frequency seen in either single homozygote. The frequency of axons ectopically crossing the midline in chb4 Abl2 double homozygous embryos is substantially increased compared to the frequency seen in either single homozygote. chb4 Abl2 double homozygous embryos show an increased frequency of premature arrest of the ISNb axon compared to either single homozygote, with the arrest being seen at both the muscle 6/7 and the muscle 13 choice points.

    Overexpression of roboScer\UAS.cKa under the control of Scer\GAL4ftz.ng in Abl2 homozygous mutants suppresses the frequency of abnormal crossovers observed in Abl2 mutants.

    Overexpression of roboY-F.Scer\UAS under the control of Scer\GAL4ftz.ng in Abl2 homozygous mutants suppresses the frequency of abnormal crossovers observed in Abl2 mutants.

    Central nervous system axons are seen to cross the midline in Abl2 captk01217 double heterozygous embryos. Central nervous system axons are seen to cross the midline in Abl2 capt10 double heterozygous embryos. Central nervous system axons are seen to cross the midline in Abl2 captE636 double heterozygous embryos. Expression of captScer\UAS.cBa under the control of Scer\GAL4elav.PLu completely rescues the midline crossing defects seen in captE636 Abl2 double heterozygotes. Expression of captC.Scer\UAS under the control of Scer\GAL4elav.PLu partially rescues the midline crossing defects seen in captE636 Abl2 double heterozygotes. The midline crossing errors seen in the central nervous system of Abl2/Abl2 embryos are suppressed by Larbypass/Larbypass. The frequency of ectopic crossing of the midline by axons in the central nervous system seen in sli2 heterozygous embryos is increased if they are also heterozygous for Abl2. The frequency of ectopic crossing of the midline by axons in the central nervous system seen in robounspecified learobo2-4 embryos is increased by Abl2/+. The frequency of ectopic crossing of the midline by axons in the central nervous system seen in robounspecified learobo2-5 embryos is increased by Abl2/+. The frequency of ectopic crossing of the midline by axons in the central nervous system seen in robounspecified robo31 embryos is increased by Abl2/+.

    chic05205a/chic221 embryos show mild defects in the Fas2-positive longitudinal fascicles of the central nervous system. The severity of the defects is enhanced by Abl2/+ and further enhanced by Abl2/Abl4.

    Dominantly suppresses the "bypass" phenotype of ISNb axons in LarOD16/Lar13.2 or Larbypass/LarE55 embryos.

    Viability of Abl2/Df(3L)st-j7 animals reduced to <1.0% when combined with Nl1N-ts1 at 18oC. Affected embryos do not show a neurogenic or antimyogenic phenotype. The gross morphology of the embryos is normal but they show axonal defects in all axon tracts known to require N function: CNS longitudinal tracts between neuromeres and the lateral portion of the ISN. Defects are evident from stage 13, in the combined MP fascicle. The nerve frays and stalls precisely as it attempts to grow along the trachea. The LG5 glial cell is present. Neurons aCC MP1 pCC dMP2 and vMP2 are all present. Pioneer neuron identity is unaffected (as assayed by ftz, eve, odd, Fas2 and pros expression).

    The pupal lethality of hemizygous flies is not affected if the flies are also mutant for Ptp99A (Ptp99AHA64/Ptp99AR3.

    Abl2, Fas1TE89Da mutant embryos exhibit gross defects in the developing CNS axon guidance and the morphogenesis of CNS axon tracts: an allele specific interaction.

    Xenogenetic Interactions
    Statement
    Reference
    Complementation and Rescue Data
    Partially rescued by

    Abl2 is partially rescued by Ablftz.PH

    Abl2 is partially rescued by Abl+mTnabl

    Comments

    Expression of AblN.Scer\UAS.T:Avic\GFP in the EW neurons of Abl2 mutant embryos results in a dramatic increase in the number of commissural defects.

    Expression of AblN.Scer\UAS.T:Avic\GFP under the control of Scer\GAL4exex-Gal4 exacerbates the ISNb stalling phenotypes found in Abl2 mutant embryos.

    Expression of AblScer\UAS.T:Avic\GFP in the EW neurons of Abl2 mutant embryos has no effect on the mild commissural defects found in these mutants.

    Expression of AblScer\UAS.T:Avic\GFP under the control of Scer\GAL4exex-Gal4 rescues the ISNb motor axon defects found in Abl2 mutants.

    Expression of AblΔFABD.Scer\UAS.T:Avic\GFP under the control of Scer\GAL4exex-Gal4 rescues the ISNb motor axon defects found in Abl2 mutants.

    Expression of AblR297K.Scer\UAS.T:Avic\GFP under the control of Scer\GAL4exex-Gal4 rescues the ISNb motor axon defects found in Abl2 mutants.

    Expression of AblK417N.Scer\UAS.T:Avic\GFP under the control of Scer\GAL4exex-Gal4 fails to rescue the ISNb motor axon defects found in Abl2 mutants.

    When two copies of Ablftz.PH are introduced into Abl2 mutants, axonal crossovers are reduced from 68% in Abl2 single mutants to 37% in the presence of the transgene.

    Expression of two copies of AblKN.ftz in Abl2 mutants results in all embryos exhibiting several axon bundles crossing the midline incorrectly.

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    Mutant
    Wild-type
    Stocks (1)
    Notes on Origin
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    External Crossreferences and Linkouts ( 0 )
    Synonyms and Secondary IDs (5)
    References (26)