FlyBase Allele Report: Dmel\Hem[J4-48]

General Information

Symbol

Dmel\Hem^J4-48

Species

D. melanogaster

Name

FlyBase ID

FBal0105155

Feature type

allele

Associated gene

Dmel\Hem

Associated Insertion(s)

Carried in Construct

Also Known As

kette^J4-48, kette^J4-048

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - genetic evidence

loss of function allele

amorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Hummel et al., 2000)

hypomorphic allele - genetic evidence

(Zhu and Bhat, 2011)

loss of function allele

(Schroter et al., 2004)

Mutagen

ethyl methanesulfonate

(Hummel et al., 2000)

Progenitor genotype

Cytology

Description

Amino acid replacement: W490term.

(Hummel et al., 2000)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3L:22,286,454..22,286,454 [-]

Nucleotide change:

G22286454A

Amino acid change:

W490term | Hem-PA

Reported amino acid change:

W490term

Comment:

G to A nucleotide change at the second or third position of the Trp codon leads to a nonsense mutation. (exact site of mutation unspecified). Site of nucleic acid difference in mutant inferred by FlyBase based on reported amino acid change.

(Hummel et al., 2000)

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 ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal cell migration (with Df(3L)ED230)

(Zhu and Bhat, 2011)

abnormal cell migration (with Hem^C3-20)

(Zhu and Bhat, 2011)

abnormal cell migration | embryonic stage

(Zhu and Bhat, 2011)

abnormal cell migration | embryonic stage (with Df(3L)ED230), with Hem^UAS.ΔJ4-48, Scer\GAL4^{VP16.nanos.UTR}

(Zhu and Bhat, 2011)

abnormal neuroanatomy (with Df(3L)ED230)

(Zhu and Bhat, 2011)

abnormal neuroanatomy (with Hem^C3-20)

(Zhu and Bhat, 2011)

abnormal neuroanatomy | embryonic stage

(Zhu and Bhat, 2011)

abnormal neuroanatomy | embryonic stage (with Df(3L)ED230), with Hem^UAS.ΔJ4-48, Scer\GAL4^{VP16.nanos.UTR}

(Zhu and Bhat, 2011)

Phenotype Manifest In

actin cytoskeleton

(Sens et al., 2010)

adult head & macrochaeta (with Hem^Δ2-6)

(Bogdan et al., 2004)

dorsal pharyngeal muscle cell

(Haralalka et al., 2014)

embryonic/larval midgut longitudinal visceral muscle cell | embryonic stage

(Rudolf et al., 2014)

embryonic/larval neuromuscular junction (with Hem^Δ2-6)

(Bogdan et al., 2004)

embryonic myoblast

(Sens et al., 2010, Richardson et al., 2007, Schafer et al., 2007)

fusion competent cell

(Sens et al., 2010)

larval longitudinal connective

(Hummel et al., 2000)

larval neuromuscular junction & bouton (with Hem^Δ2-6)

(Bogdan et al., 2004)

larval RP2 motor neuron | embryonic stage

(Zhu and Bhat, 2011)

larval RP2 motor neuron | embryonic stage (with Df(3L)ED230)

(Zhu and Bhat, 2011)

larval RP2 motor neuron | embryonic stage (with Df(3L)ED230), with Hem^UAS.ΔJ4-48, Scer\GAL4^{VP16.nanos.UTR}

(Zhu and Bhat, 2011)

larval RP2 motor neuron | embryonic stage (with Hem^C3-20)

(Zhu and Bhat, 2011)

larval somatic muscle cell

(Schroter et al., 2004)

larval ventral nerve cord commissure

(Hummel et al., 2000)

longitudinal trunk visceral muscle primordium (with Hem^G1-37)

(Rudolf et al., 2014)

muscle founder cell

(Sens et al., 2010)

somatic muscle primordium

(Schroter et al., 2004)

Detailed Description

Statement

Reference

Bouton numbers are unaffected at the NMJ of Hem^J4-48/+ third instar larvae.

(Kim et al., 2019)

Mutant stage 16 embryos show a severe myoblast fusion defect in the dorsal pharyngeal muscle.

(Haralalka et al., 2014)

Hem^J4-48/Hem^G1-37 transheterozygote embryos display defects in the number, migration and morphology of visceral longitudinal muscle founder cells.

Defects in longitudinal muscle fusion are observed in Hem^J4-48 mutant embryos: mainly mononucleated and only a few binucleated muscle cells are found at late embryonic stages.

(Rudolf et al., 2014)

Approximately 13% ofHem^J4-48 mutant embryos display a duplication of the RP2 neuron in one hemisegment and have one missing in the contralateral segment. The GMC is formed correctly in both hemisegments and divides normally into an RP2 and a sib cell. The RP2 duplication occurs due to aberrant crossing of the midline at 11hr of development. The sib cell remains in the correct hemisegment. In 4% of Hem^J4-48 embryos the RP2 neurons fail to migrate and are found in the position of a newly formed GMC-1. No axon projections are seen in these cells. The axonal projections in the mis-migrated RP2 cells have a contra-ipsilateral axon projection, fasciculating correctly with the intersegmental nerve bundle. No defects are seen in the commissural tracts.

Hem^J4-48/Hem^C3-20 mutant embryos have a duplication of the RP2 neuron in one hemisegment and have one missing in the contralateral segment.

Hem^J4-48/Df(3L)ED230 mutant embryos have a duplication of the RP2 neuron in one hemisegment and have one missing in the contralateral segment.

17% of embryos expressing Hem^{Scer\UAS.ΔJ4-48} under the control of Scer\GAL4^{nos.UTR.T:Hsim\VP16} in a Hem^J4-48/Df(3L)ED230 mutant background display an RP2 neuron defect in which a duplication is seen in one hemisegment and have one missing in the contralateral segment. The GMC is formed in both hemisegments and divides normally into an RP2 and a sib cell. The RP2 duplication occurs due to aberrant crossing of the midline at 11hr of development. The sib cell remains in the correct hemisegment.

(Zhu and Bhat, 2011)

Hem^J4-48 mutants exhibit normal visceral mesoderm development, resulting in normal gut development.

(Eriksson et al., 2010)

Stage 15 Hem^J4-48 mutant embryos contain enlarged F-actin foci. These actin foci are found in fusion competent myoblasts (FCMs), but are not seen in founder cells. The percentage of invasive foci and depth of invasion are both comparable to wild type. Myoblast fusion is blocked before fusion pore formation as cytoplasmic material exchange does not occur between the founder cell and FCM.

(Sens et al., 2010)

Hem^J4-48 mutants show enlarged foci, as well as increased numbers of actin foci. Enlarged foci are seen in these mutants from the earliest stages of fusion and foci persist after fusion would be complete in wild-type.

(Richardson et al., 2007)

Homozygous Hem^J4-48 mutant embryos exhibit a myoblast fusion phenotype.

(Schafer et al., 2007)

Hem^J4-48/Hem^Δ2-6 larvae have reduced neuromuscular junctions with bulging, irregular boutons. About 15% of the heads of Hem^J4-48/Hem^Δ2-6 flies have one or more bent macrochaetae.

(Bogdan et al., 2004)

Hem^J4-48 mutant embryos contain many unfused myoblasts, even at stage 16, which cluster close to stretched mini-muscles. Marker analysis indicates that both founder cells and fusion competent myoblasts form normally at stage 13 in these embryos. By stage 14 mini-muscles with 3-4 nuclei are apparent at the site of the developing DA1 and DO1 muscles. As in wild-type, these 3-4 nuclei precursor cells establish contacts with fusion-competent myoblasts and plaques form at the sites of contact. Unlike wild-type, there is no sign of membrane breakdown in the vicinity of these plaques which remain visible into stage 15. Further fusion fails to occur. By contrast stage 15-16 wild type DA1 contains up to 14 nuclei. Dorsal closure is normal in Hem^J4-48 mutant embryos, as is formation of the dorsal vessel and cardioblasts.

(Schroter et al., 2004)

Commissures are fused in stage 16 mutant embryos, and the two longitudinal connectives are closer to the midline than in normal embryos.

(Hummel et al., 2000)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hem^J4-48 has abnormal neuroanatomy | embryonic stage phenotype, enhanceable by Abl²

(Zhu and Bhat, 2011)

Hem^J4-48 has abnormal cell migration | embryonic stage phenotype, enhanceable by Abl²

(Zhu and Bhat, 2011)

Suppressed by

Statement

Reference

Hem^J4-48 has abnormal neuroanatomy | embryonic stage phenotype, suppressible by Scer\GAL4^sca.PU/SCAR^UASp.cZa

(Zhu and Bhat, 2011)

Hem^J4-48 has abnormal cell migration | embryonic stage phenotype, suppressible by Scer\GAL4^sca.PU/SCAR^UASp.cZa

(Zhu and Bhat, 2011)

Enhancer of

Statement

Reference

Hem^J4-48 is an enhancer of abnormal neuroanatomy | embryonic stage phenotype of Abl²

(Zhu and Bhat, 2011)

Hem^J4-48 is an enhancer of abnormal cell migration | embryonic stage phenotype of Abl²

(Zhu and Bhat, 2011)

NOT Enhancer of

Statement

Reference

Hem[+]/Hem^J4-48 is a non-enhancer of lethal | embryonic stage phenotype of WASp^3D3-035

(Schafer et al., 2007)

NOT Suppressor of

Statement

Reference

Hem[+]/Hem^J4-48 is a non-suppressor of lethal | embryonic stage phenotype of WASp^3D3-035

(Schafer et al., 2007)

Other

Statement

Reference

Abi⁵, Hem[+]/Hem^J4-48 has abnormal neuroanatomy | dominant | third instar larval stage phenotype

(Kim et al., 2019)

Hem^J4-48, insc²² has abnormal neuroanatomy | embryonic stage phenotype

(Zhu and Bhat, 2011)

Hem^J4-48, insc²² has abnormal cell migration | embryonic stage phenotype

(Zhu and Bhat, 2011)

Hem^J4-48, numb⁷⁹⁶ has abnormal neuroanatomy | embryonic stage phenotype

(Zhu and Bhat, 2011)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hem^J4-48 has larval RP2 motor neuron | embryonic stage phenotype, enhanceable by Abl²

(Zhu and Bhat, 2011)

NOT Enhanced by

Statement

Reference

Hem^J4-48 has embryonic myoblast phenotype, non-enhanceable by WASp^3D3-035

(Schafer et al., 2007)

Suppressed by

Statement

Reference

Hem^J4-48 has larval RP2 motor neuron | embryonic stage phenotype, suppressible by Scer\GAL4^sca.PU/SCAR^UASp.cZa

(Zhu and Bhat, 2011)

Hem^J4-48 has embryonic myoblast phenotype, suppressible by WASp^3D3-035/WASp[+]

(Schafer et al., 2007)

Hem^J4-48 has larval ventral nerve cord commissure phenotype, suppressible by Rac1^V12.UAS/Scer\GAL4^sim.PS

(Hummel et al., 2000)

Hem^J4-48 has larval longitudinal connective phenotype, suppressible by Rac1^V12.UAS/Scer\GAL4^sim.PS

(Hummel et al., 2000)

Enhancer of

Statement

Reference

Hem^J4-48 is an enhancer of larval RP2 motor neuron | embryonic stage phenotype of Abl²

(Zhu and Bhat, 2011)

NOT Enhancer of

Statement

Reference

Hem[+]/Hem^J4-48 is a non-enhancer of embryonic myoblast phenotype of WASp^3D3-035

(Schafer et al., 2007)

Hem[+]/Hem^J4-48 is a non-enhancer of muscle attachment site phenotype of WASp^3D3-035

(Schafer et al., 2007)

NOT Suppressor of

Statement

Reference

Hem[+]/Hem^J4-48 is a non-suppressor of embryonic myoblast phenotype of WASp^3D3-035

(Schafer et al., 2007)

Hem[+]/Hem^J4-48 is a non-suppressor of muscle attachment site phenotype of WASp^3D3-035

(Schafer et al., 2007)

Hem[+]/Hem^J4-48 is a non-suppressor of microchaeta phenotype of Cyfip^{UAS.Tag:Myr(Src64B)}, Scer\GAL4^sca.PC

(Bogdan et al., 2004)

Other

Statement

Reference

Abi⁵, Hem[+]/Hem^J4-48 has NMJ bouton | third instar larval stage phenotype

(Kim et al., 2019)

Abi⁵, Hem[+]/Hem^J4-48 has embryonic/larval neuromuscular junction | third instar larval stage phenotype

(Kim et al., 2019)

Hem^J4-48, insc²² has larval RP2 motor neuron | embryonic stage phenotype

(Zhu and Bhat, 2011)

Hem^J4-48, insc²² has RP2sib neuron | embryonic stage phenotype

(Zhu and Bhat, 2011)

Hem^J4-48, numb⁷⁹⁶ has larval RP2 motor neuron | embryonic stage phenotype

(Zhu and Bhat, 2011)

Hem^J4-48, numb⁷⁹⁶ has RP2sib neuron | embryonic stage phenotype

(Zhu and Bhat, 2011)

Additional Comments

Genetic Interactions

Statement

Reference

Expression of psidin^Scer\UAS.cKa under the control of Scer\GAL4^slbo.2.6 in a Hem^J4-48 heterozygous background has little or no effect on border cell migration.

(Kim et al., 2011)

Abl² Hem^J4-48 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.

Expression of SCAR^{Scer\UAS.P\T.cZa} under the control of Scer\GAL4^sca.PU suppresses the RP2 neuron migration defects seen in Hem^J4-48 mutant embryos.

Embryos double mutant for insc²² and Hem^J4-48 display hemisegments containing 4 RP2 neurons and no sib cells. No RP2 or sib cells are found in the contralateral hemisegment.

Embryos double mutant for insc²² and Hem^J4-48 display hemisegments containing two sib neurons and no RP2 neurons.

(Zhu and Bhat, 2011)

Expression of Act5C^{Scer\UAS.P\T.T:Avic\GFP} in Hem^J4-48 mutant founder cells under the control of Scer\GAL4^kirre-rP298 does not result in production of actin enriched structures on the membrane.

(Sens et al., 2010)

Hem^J4-48/WASp^3D3-035 double mutants exhibit a similar myoblast fusion phenotype as Hem^J4-48 single mutants. A Hem^J4-48 heterozygous background does not influence the WASp^3D3-035 homozygous mutant phenotype. A WASp^3D3-035 heterozygous background partially suppresses the block of fusion observed in Hem^J4-48 homozygous mutants.

(Schafer et al., 2007)

The short and split microchaetae phenotype of Sra-1^{Scer\UAS.T:Myr1}; Scer\GAL4^sca.PC flies unaffected by Hem^J4-48/+.

(Bogdan et al., 2004)

The Hem^J4-48 mutant phenotype is partially rescued by expression of Rac1^V12.Scer\UAS under the control of Scer\GAL4^sim.PS; the longitudinal connectives appear further apart and the commissures appear separated. VUM neurons are often seen projecting normally at the midline.

(Hummel et al., 2000)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

Hem⁰³³³⁵

(Hummel et al., 2000)

Partially rescued by

Hem^J4-48 is partially rescued by Scer\GAL4^twi.PG/Hem^UAS.cHa

(Schroter et al., 2004)

Hem^J4-48 is partially rescued by Hem^UAS.cHa/Scer\GAL4^sim.PS

(Hummel et al., 2000)

Comments

The loss of muscle fusion seen in Hem^J4-48 mutant embryos is almost completely rescued by Hem^Scer\UAS.cHa; Scer\GAL4^twi.PG.

(Schroter et al., 2004)

Hem^Scer\UAS.cHa partially rescues the Hem^J4-48 phenotype when expressed under the control of Scer\GAL4^sim.PS; commissures are separated and connectives are at a further distance from the midline compared to non-rescued Hem^J4-48 embryos. The VUM neurons show a normal projection pattern.

(Hummel et al., 2000)

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

8753

st¹ e¹ Hem^J4-48/TM6B, P{ase-lacZF:2.0}PK3, Tb¹

Notes on Origin

Discoverer

Comments

Allelic series based on mutant phenotype; Hem^C3-20 = Hem^J4-48 > Hem^P168 > Hem^G1-37 > Hem^J1-70.

(Hummel et al., 2000)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

Hem^J4-48

(Cheong et al., 2020, Zhu and Bhat, 2011)

kette^J4-048

(Schroter et al., 2004, Hummel et al., 2000)

kette^J4-48

(Zhang et al., 2020, Kim et al., 2019, Hamp et al., 2016, Deng et al., 2015, Bothe et al., 2014, Haralalka et al., 2014, Rudolf et al., 2014, Duan et al., 2012, Hornbruch-Freitag et al., 2011, Jin et al., 2011, Kim et al., 2011, Eriksson et al., 2010, Sens et al., 2010, Beckett and Baylies, 2007, Richardson et al., 2007, Schafer et al., 2007, Bogdan et al., 2004)

Name Synonyms

Secondary FlyBase IDs

References (22)

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