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General Information
Symbol
Dmel\Abl1
Species
D. melanogaster
Name
FlyBase ID
FBal0028708
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:

    C16627018T

    Reported nucleotide change:

    C?T

    Amino acid change:

    Q686term | Abl-PA; Q704term | Abl-PB; Q686term | Abl-PC; Q704term | Abl-PD; Q686term | Abl-PE; Q704term | Abl-PF; Q704term | Abl-PG; Q686term | Abl-PH; Q704term | Abl-PI; Q686term | Abl-PJ

    Reported amino acid change:

    Q686term

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

    Nucleotide substitution: C?T.

    Amino acid replacement: Q686term.

    Truncated Abl protein.

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

    Abl1/Abl4 third instar larvae display supernumerary mature and satellite NMJ boutons. A significant increase in the number of synaptic boutons containing microtubule loops points towards an increase in microtubule stability.

    The class IV dendritic arborizing neurons in Abl1/Abl1 MARCM somatic clones display slightly but significantly decreased presynaptic terminal lengths than controls but dendritic length or morphology is unchanged.

    Abl1 mutants exhibit minor midline crossing defects.

    37% of Abl1/Abl4 embryos show abnormal crossing of the midline of Fas2-positive axons.

    Bouton number per muscle area is significantly increased at the larval neuromuscular junction in Abl1/Abl4 and Abl1/Df(3L)st-j7 mutants compared to controls.

    The amplitude of both evoked excitatory junctional potentials (EJPs) and spontaneous EJPs (mEJPs) at the larval neuromuscular junction are unaffected in Abl1/Abl4 larvae, but the frequency of mEJPs is increased by 57% compared to controls.

    General features of synapse structure (including bouton morphology, active zones with T-bars and the structure of subsynaptic reticulum) appear unaffected at the neuromuscular junction of Abl1/Abl4 larvae. However, the average density of the total synaptic vesicles is decreased by 50% in the mutant boutons. In addition, enlarged, but electron-clear vesicles are often seen near the T-bar.

    90% of Abl1/Abl2 embryos hatch.

    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.

    1.2% of segments have thin/missing commissures and 5.4% of segment have commissures with pathfinding errors in Abl1/Abl4 embryos.

    In homozygous Abl1 stage 16 embryos, several axon bundles cross the midline incorrectly.

    96% of the expected number of Abl1/Abl4 pupae are observed, while 56% of the expected number of Abl1/Abl4 adults are observed. 3% of segments have commissure defects in the central nervous system of Abl1/Abl4 embryos.

    Homozygous embryos show ectopic crossing of the midline by axons in the central nervous system. The most lateral Fas2-positive fascicle is often thin or missing.

    Abl1 embryos derived from homozygous Abl1 female germline clones (lacking both maternal and zygotic Abl function) die at the end of embryogenesis, while embryos derived from homozygous Abl1 female germline clones that receive a wild-type paternal copy of Abl survive to adulthood. Abl1 mutant embryos derived from homozygous Abl1 female germline clones show a range of defects. 1% are "U-shaped", showing a complete failure of germband retraction. 13% have a "tail-up" phenotype, showing strong defects in germband retraction and also often have defects in dorsal closure. 67% have defects in dorsal closure ranging from dorsal holes to defects in the dorsal pattern. 1% have severe defects in head involution, most in this class also show defects in dorsal closure and/or germband retraction.

    In Abl1/Abl4 mutant larvae the ISNb fails to innervate muscle.

    Abl1/Abl4 mutants show mild defects in axon pathfinding in the longitudinal connectives which may be thinned and uneven.

    ISNb growth cones fail to reach the distal target (muscle 12) in 63% of hemizygous embryos, although contacts with muscles 6,7 and 13 appear grossly normal. 53% of ISNb growth cones terminate before reaching muscle 12 in homozygous embryos. The Fas2-positive longitudinal fascicles of the central nervous system are disorganised in hemizygous embryos, with breaks in the most lateral fascicle being common.

    Shows 41% viability when heterozygous with Df(3L)st-j7.

    Homozygous embryos have a normal central nervous system.

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

    Abl4/Abl1 has abnormal neuroanatomy phenotype, enhanceable by AmaM109/Ama[+]

    Abl4/Abl1 has lethal phenotype, enhanceable by AmaM109/Ama[+]

    Abl4/Abl1 has lethal | prepupal stage phenotype, enhanceable by NrtM221/Nrt[+]

    Abl4/Abl1 has lethal | prepupal stage phenotype, enhanceable by Df(3L)Fpa1/+

    Abl4/Abl1 has lethal | prepupal stage phenotype, enhanceable by faxM7/fax[+]

    Abl4/Abl1 has lethal | prepupal stage phenotype, enhanceable by trio[+]/trioM89

    Abl1/Df(3L)st-j7 has lethal phenotype, enhanceable by Nl1N-ts1

    Abl1 has lethal phenotype, enhanceable by NrtM2

    Abl1 has lethal phenotype, enhanceable by NrtM29

    Abl1 has lethal phenotype, enhanceable by prosm4

    NOT Enhanced by
    Statement
    Reference

    Abl4/Abl1 has abnormal neuroanatomy phenotype, non-enhanceable by AmaR1/Ama[+]

    Abl4/Abl1 has abnormal neuroanatomy phenotype, non-enhanceable by Df(3R)ama/+

    Suppressed by
    Statement
    Reference

    Abl4/Abl1 has lethal phenotype, suppressible | partially by Abi[+]/AbiKO

    Abl4/Abl1 has abnormal neuroanatomy | larval stage phenotype, suppressible | partially by Abi[+]/AbiKO

    Abl4/Abl1 has lethal phenotype, suppressible | partially by Abi[+]/AbiP1

    Abl1/Abl[+], Khc16 has paralytic | dominant | larval stage phenotype, suppressible by ena[+]/ena210

    Abl1/Abl[+], Khc16 has abnormal neuroanatomy | dominant | larval stage phenotype, suppressible by ena[+]/ena210

    Abl4/Abl1 has lethal phenotype, suppressible by ena[+]/enaGC10

    Abl4/Abl1, NrtM221/Nrt[+] has lethal | prepupal stage phenotype, suppressible by ena[+]/enaGC10

    Abl4/Abl1, faxM7/fax[+] has lethal | prepupal stage phenotype, suppressible by ena[+]/enaGC10

    Abl4/Abl1, trio[+]/trioM89 has lethal | prepupal stage phenotype, suppressible by ena[+]/enaGC10

    NOT suppressed by
    Statement
    Reference

    Abl4/Abl1 has abnormal neuroanatomy | larval stage phenotype, non-suppressible by ena[+]/enaGC5

    Abl4/Abl1 has abnormal neuroanatomy | larval stage phenotype, non-suppressible by Hem[+]/HemC3-20

    Abl4/Abl1 has abnormal neuroanatomy | larval stage phenotype, non-suppressible by SCARΔ37/SCAR[+]

    Enhancer of
    Statement
    Reference

    Abl1/Abl[+] is an enhancer of abnormal neuroanatomy phenotype of fra6/fra3

    Abl1/Abl[+] is an enhancer of abnormal neuroanatomy phenotype of Df(2R)vg135/fra4

    Abl1/Abl[+] is an enhancer of abnormal neuroanatomy phenotype of fra4

    Abl1/Abl[+] is an enhancer of lethal phenotype of trioM89/trioS036810

    NOT Enhancer of
    Statement
    Reference

    Abl1/Abl[+] is a non-enhancer of abnormal neuroanatomy phenotype of Df(2R)BSC3/fra3

    Suppressor of
    NOT Suppressor of
    Other
    Statement
    Reference
    Phenotype Manifest In
    Enhanced by
    Statement
    Reference

    Abl2/Abl1 has lamina | third instar larval stage phenotype, enhanceable by eya[+]/eyaA188

    Abl4/Abl1 has larval posterior commissure phenotype, enhanceable by trio[+]/trioM89

    Abl4/Abl1 has larval anterior commissure phenotype, enhanceable by trio[+]/trioM89

    Abl4/Abl1 has larval longitudinal connective phenotype, enhanceable by trio[+]/trioM89

    Abl1 has phenotype, enhanceable by faxM12

    Abl1 has phenotype, enhanceable by faxM34

    Abl1 has phenotype, enhanceable by faxM42

    Abl1 has phenotype, enhanceable by faxM7

    NOT Enhanced by
    Statement
    Reference
    Suppressed by
    Statement
    Reference
    NOT suppressed by
    Statement
    Reference

    Abl4/Abl1 has NMJ bouton | increased number phenotype, non-suppressible by ena[+]/enaGC5

    Abl4/Abl1 has NMJ bouton | increased number phenotype, non-suppressible by Hem[+]/HemC3-20

    Abl4/Abl1 has NMJ bouton | increased number phenotype, non-suppressible by SCARΔ37/SCAR[+]

    Enhancer of
    Statement
    Reference
    NOT Enhancer of
    Statement
    Reference

    Abl1/Abl[+] is a non-enhancer of EW neuron phenotype of Df(2R)BSC3/fra3

    Abl1/Abl[+] is a non-enhancer of symmetrical commissure phenotype of Df(2R)BSC3/fra3

    Suppressor of
    Statement
    Reference

    Abl1/Abl[+] is a suppressor of ventral adult lateral neuron & axon phenotype of Hsap\APPUAS.Tag:MYC, Scer\GAL4P2.4.Pdf

    Abl1/Abl[+] is a suppressor of eye phenotype of CycEJP

    NrtM54/Abl1 is a suppressor | partially of larval intersegmental nerve | heat sensitive phenotype of Nl1N-ts1

    Abl1/Abl[+] is a suppressor | partially of larval intersegmental nerve | heat sensitive phenotype of Nl1N-ts1

    robo[+], Abl1, robo15, Abl[+] is a suppressor of larval longitudinal connective phenotype of sli1

    Abl1/Abl[+] is a suppressor of larval longitudinal connective phenotype of robo15, sli[+]/sli1

    Abl1/Df(3L)st-j7 is a suppressor of phenotype of arm4

    Abl1 is a suppressor of phenotype of arm4

    NOT Suppressor of
    Other
    Statement
    Reference

    Abl1/Abl[+], Khc16 has axon phenotype

    Additional Comments
    Genetic Interactions
    Statement
    Reference

    Df(3R)su(Hw)7/+ ; Abl1/+ third instar larvae display supernumerary mature and satellite NMJ boutons. A significant increase in the number of synaptic boutons containing microtubule loops points towards an increase in microtubule stability.

    The increased presynaptic terminal length observed in class IV dendritic arborizing neurons in somatic MARCM clones expressing Dscam1exon17.2.Scer\UAS.T:Avic\GFP under the control of Scer\GAL4ppk.PG in third instar larvae is completely abolished in clones that are also homozygous mutant for Abl1.

    The ectopic repulsion between between class I and class III dendritic arborizing neurons in third instar larvae observed upon expression of Dscam1exon17.2.Scer\UAS.T:Avic\GFP under the control of Scer\GAL4109(2)80 cannot be rescued by combination with Abl1/Abl4.

    The increased presynaptic terminal length of class IV dendritic arborizing neurons in Fmr1Δ50M/Fmr1Δ50M MARCM somatic clones in third instar larvae is completely suppressed by combination with Abl1 in heterozygous state.

    Abl1/+ partially rescues the ISNb defasiculation defects seen in homozygous EndoGIcwk embryos.

    A Abl1 heterozygous background dominantly enhances the commissural defect seen in tutlex383 mutant embryos. tutlex383; Abl1 double homozygous embryos exhibit commissural axon defects, with an extreme reduction in commissure formation and fragmented longitudinal connectives.

    The frequency of the midline crossing defect seen in Fas-expressing axons in Abl1/Abl4 embryos is suppressed from 37% to 18% by AbiP2/+.

    The increased bouton number per muscle area that is seen at the neuromuscular junction of Abl1/Abl4 larvae is not suppressed by enaGC5/+.

    The increased bouton number per muscle area that is seen at the neuromuscular junction of Abl1/Abl4 larvae is significantly suppressed by AbiKO/+. This suppression further increased if the flies are also carrying enaGC5/+.

    The increased bouton number per muscle area that is seen at the neuromuscular junction of Abl1/Abl4 larvae is not suppressed by HemC3-20/+.

    The increased bouton number per muscle area that is seen at the neuromuscular junction of Abl1/Abl4 larvae is suppressed by SCARΔ37/+.

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

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

    The frequency of the loss of commissure phenotype seen in Abl1/Abl4 embryos is not enhanced by fra4/+, but the frequency of commissures with pathfinding errors is increased in the fra4/+; Abl1/Abl4 embryos compared to Abl1/Abl4.

    Khc16/+ ; Abl1/+ double heterozygous larvae show posterior paralysis or "tail-flipping" and show an increase in the size and abundance of axonal swellings.

    Khc16/ena210 ; Abl1/+ triple heterozygous larvae do not show a tail-flipping phenotype and there is a marked reduction in axonal swellings compared to Khc16/+ ; Abl1/+ double heterozygous larvae.

    Abl1 AmaM109/Df(3R)MAP11 embryos develop normal cuticles. Abl1 AmaM109/Abl4 animals do not survive to the pupal stage. AmaM109/+ increases the frequency of commissure defects in the central nervous system of Abl1/Abl4 embryos; 31% of segments have commissure defects in the double mutant embryos. Survival to pupation and the percentage of segments with commissure defects in the central nervous system in Abl1/Abl4 animals is not dramatically altered by Df(3R)ama/+. 104% of the expected number of Abl1 AmaR1/Abl4 pupae are observed, while 67% of the expected number of Abl1 AmaR1/Abl4 adults are observed. 4% of segments have commissure defects in the central nervous system of Abl1 AmaR1/Abl4 embryos. 23% of segments have commissure defects in the central nervous system of Abl1 AmaR1/Abl4 Df(3R)ama embryos. 86% of segments have commissure defects in the central nervous system of Abl1 AmaM109/Abl4 Df(3R)ama embryos. 31% of segments have commissure defects in the central nervous system of Abl1 NrtM54/Abl4 embryos. 36% of segments have commissure defects in the central nervous system of Abl1 NrtM100/Abl4 embryos. 63% of segments have commissure defects in the central nervous system of Abl1 NrtM54/NrtM2 Df(3L)st-j7 embryos.

    The midline crossing errors seen in the central nervous system of Abl1/Abl1 embryos are suppressed by Lar13.2/Lar13.2.

    Heterozygosity for shg2 results in lethality in Abl1/+ embryos derived from homozygous Abl1 female germline clones. Heterozygosity for shgR69 results in lethality in Abl1/+ embryos derived from homozygous Abl1 female germline clones. Heterozygosity for scb2 does not result in lethality in Abl1/+ embryos derived from homozygous Abl1 female germline clones.

    Dominantly suppresses the "bypass" phenotype of ISNb axons in Larbypass/Larbypass, Larbypass/Lar5.5, Larbypass/Lar13.2 or Larbypass/LarE55 embryos. The ISNd bypass phenotype of Larbypass/LarE55 embryos is also suppressed by Abl1.

    Viability of Abl1/Df(3L)st-j7 flies is reduced to <1.5% 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). Heterozygotes of Df(1)N-8 or N55e11 with Abl1, NrtM54 or In(3L)std11 show defects in eye development leading to rough eyes with high penetrance.

    Mutants exhibit a relatively normal axon scaffold with minor defects: thin connectives and commissures. In combination with Df(3R)T-47/Df(3R)kar-D1 mutants exhibit severe axonal defects in which the longitudinals and commissures are thin or absent. Axons are disorganised and bulging.

    arm4; Abl1/Abl4 embryos show disruptions in axonogenesis, including fused or missing commissures. The defects become more severe as development proceeds, such that, by stage 16, the central nervous system is dramatically disrupted. arm3; Abl1/Abl1 embryos show disruptions in axonogenesis, including segmental gaps along the longitudinal nerves. Abl+mTnabl significantly reduces the central nervous system defects of arm4; Abl1/In(3L)std11 embryos. Abl1/Df(3L)st-j7 suppresses the segment polarity phenotype of hemizygous arm4 embryos.

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

    fax mutations dominantly enhance the mutant phenotype, shift the lethal phase to a prepupal stage. This phenotype can be moderately rescued by Abl+mTnabl-lys and completely rescued by Abl+mTnabl.

    Abl1/Df(3L)st-j7 NrtM2 double mutant causes absence of most intersegmental longitudinal axon bundles and most commissural axon bundles. The loss of pros has an additive effect on the mutant phenotype. Loss of Abl function does not detectably alter pros mutant phenotype.

    Abl1, 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

    Heterozygosity for Abl1suppresses the Scer\GAL4P2.4.Pdf>Hsap\APPScer\UAS.T:Hsap\MYC-induced increase in axonal arborization of the sLNv.

    Abl1/Df(3L)st-j7 flies carrying Abl::Hsap\ABL1::Hsap\BCRP210.Scer\UAS or Abl::Hsap\ABL1::Hsap\BCRP185.Scer\UAS expressed under the control of Scer\GAL431 are variably fertile. Abl1/Df(3L)st-j7 flies carrying Abl::Hsap\ABL1::Hsap\BCRP210.Scer\UAS or Abl::Hsap\ABL1::Hsap\BCRP185.Scer\UAS expressed under the control of Scer\GAL431 have rough eyes. The lethality of Abl1/NrtM2 Df(3L)st-j7 is partially rescued by Abl::Hsap\ABL1::Hsap\BCRP210.Scer\UAS or Abl::Hsap\ABL1::Hsap\BCRP185.Scer\UAS expressed under the control of Scer\GAL431.

    Complementation and Rescue Data
    Partially rescued by
    Not rescued by
    Comments

    Abl1/Df(3L)st-j7 flies carrying AblScer\UAS.cFa expressed under the control of Scer\GAL431 have rough eyes. The lethality of Abl1/NrtM2 Df(3L)st-j7 is partially rescued by AblScer\UAS.cFa or AblK417N.Scer\UAS expressed under the control of Scer\GAL431.

    The phenotype seen in ISNb growth cones, is not rescued by Abl+mTnabl-lys but is partially rescued by Abl+mTnabl.

    Images (0)
    Mutant
    Wild-type
    Stocks (5)
    Notes on Origin
    Discoverer
    Comments
    Comments

    Protein product does not specifically localize in the axon bundles of the CNS.

    External Crossreferences and Linkouts ( 0 )
    Synonyms and Secondary IDs (4)
    References (39)