FlyBase Allele Report: Dmel\ATP7[ΔP17]

General Information

Symbol

Dmel\ATP7^ΔP17

Species

D. melanogaster

Name

FlyBase ID

FBal0221294

Feature type

allele

Associated gene

Dmel\ATP7

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

Mutagen

Delta2-3 transposase

Nature of the Allele

Allele class

loss of function allele

(Norgate et al., 2006)

Mutagen

Delta2-3 transposase

(Norgate et al., 2006)

Progenitor genotype

ATP7^EP308

(Norgate et al., 2006)

Cytology

Description

Imprecise excision of P{EP}ATP7^EP308 has produced a 1134-base pair deletion beginning at the insertion site and removing the transcription start site and extending 798bp into the coding sequence of ATP7. This deletion includes sequence encoding the first three metal binding sites.

(Norgate et al., 2006)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

X:11,855,047..11,856,149 [+]

Comment:

Deletion resulting from the imprecise excistion of P{EP}ATP7^EP308. Deletion reported as extending from the insertion site to 798 bp into the ATP7 coding region.

(Norgate et al., 2006)

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 Menkes disease

CEA

(Norgate et al., 2006)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Menkes disease

is ameliorated by ATP7^UAS.Tag:FLAG

(Norgate et al., 2006)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

decreased body size | larval stage

(Mercer et al., 2017)

lethal

(Mercer et al., 2017)

lethal | embryonic stage | germline clone | maternal effect

(Norgate et al., 2006)

lethal | first instar larval stage

(Norgate et al., 2006)

lethal - all die before end of larval stage

(Burke et al., 2008)

lethal - all die before end of pupal stage (with ATP7^UAS.EYFP), with Scer\GAL4^ATP7.PB

(Burke et al., 2008)

male sterile (with ATP7^UAS.cBa), with Scer\GAL4^ATP7.PB

(Burke et al., 2008)

short lived (with ATP7^UAS.cBa), with Scer\GAL4^ATP7.PB

(Burke et al., 2008)

short lived | nutrition conditional (with ATP7^UAS.EYFP), with Scer\GAL4^ATP7.PB

(Burke et al., 2008)

some die during larval stage

(Burke et al., 2008)

some die during pupal stage (with ATP7^UAS.EYFP), with Scer\GAL4^ATP7.PB

(Burke et al., 2008)

viable (with ATP7^UAS.cBa), with Scer\GAL4^ATP7.PB

(Burke et al., 2008)

viable | nutrition conditional (with ATP7^UAS.EYFP), with Scer\GAL4^ATP7.PB

(Burke et al., 2008)

visible (with ATP7^UAS.cBa), with Scer\GAL4^ATP7.PB

(Burke et al., 2008)

visible | adult stage | nutrition conditional (with ATP7^UAS.EYFP), with Scer\GAL4^ATP7.PB

(Burke et al., 2008)

Phenotype Manifest In

adult cuticle | nutrition conditional (with ATP7^UAS.EYFP), with Scer\GAL4^ATP7.PB

(Burke et al., 2008)

eye (with ATP7^UAS.cBa), with Scer\GAL4^ATP7.PB

(Burke et al., 2008)

eye | nutrition conditional (with ATP7^UAS.EYFP), with Scer\GAL4^ATP7.PB

(Burke et al., 2008)

macrochaeta (with ATP7^UAS.cBa), with Scer\GAL4^ATP7.PB

(Burke et al., 2008)

macrochaeta | nutrition conditional (with ATP7^UAS.EYFP), with Scer\GAL4^ATP7.PB

(Burke et al., 2008)

mesothoracic tergum

(Norgate et al., 2006)

microchaeta (with ATP7^UAS.cBa), with Scer\GAL4^ATP7.PB

(Burke et al., 2008)

microchaeta | nutrition conditional (with ATP7^UAS.EYFP), with Scer\GAL4^ATP7.PB

(Burke et al., 2008)

mouth hook

(Mercer et al., 2017)

mouth hook | first instar larval stage

(Norgate et al., 2006)

tergite

(Norgate et al., 2006)

Detailed Description

Statement

Reference

Male flies expressing two copies of ATP7^Scer\UAS.cBa under the control of Scer\GAL4^ATP7.PB in a ATP7^ΔP17 mutant background are sterile, short lived and have a mild rough eye phenotype. Microchaetae and some microchaetae lack proper pigmentation.

Expressing ATP7^{Scer\UAS.T:Avic\GFP-EYFP} under the control of Scer\GAL4^ATP7.PB in a ATP7^ΔP17 mutant background results in pupal lethality, but rare escapers are seen when the larvae are raised on food supplemented with 1mM Cu. These escapers display severe lack of cuticle, macrochaetae and microchaetae pigmentation as well as a strong rough eye phenotype. Death occurs within a few hours of eclosion.

(Burke et al., 2008)

At hatching, ATP7^ΔP17/Y larvae are normal sized but are very lethargic compared to their heterozygous/wild-type siblings and have smaller mouthparts with reduced pigmentation. The larvae feed, but much less than their wild-type siblings. They animals fail to grow or make the transition to 2nd instar and die by 36 hours after hatching. This phenotype is unaffected by raising on copper supplemented or copper depleted media. No change in expression of copper responsive genes is seen in these larvae compared to wild-type larvae raised under identical conditions.

Embryos from ATP7^ΔP17 homozygous germ-line clone mothers appear to develop normally apart from having reduced, hypopigmented mouth hooks, but they fail to hatch. This phenotype is unaffected by raising parents on copper supplemented or copper depleted media.

ATP7^ΔP17 homozygous somatic clones in the adult thorax or abdomen are depigmented.

(Norgate et al., 2006)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

ATP7^ΔP17 is rescued by ATP7^WT.EGFP

(Mercer et al., 2017)

ATP7^ΔP17 is rescued by Scer\GAL4^ATP7.PB/ATP7^UAS.cBa

(Burke et al., 2008)

ATP7^ΔP17 is rescued by Scer\GAL4^Act5C.PI/ATP7^UAS.Tag:FLAG

(Norgate et al., 2006)

Partially rescued by

ATP7^ΔP17 is partially rescued by ATP7^DMN.EGFP

(Mercer et al., 2017)

ATP7^ΔP17 is partially rescued by ATP7^WND.EGFP

(Mercer et al., 2017)

ATP7^ΔP17 is partially rescued by Scer\GAL4^ATP7.PB/ATP7^UAS.EYFP

(Burke et al., 2008)

Not rescued by

ATP7^ΔP17 is not rescued by ATP7^MNK.EGFP

(Mercer et al., 2017)

ATP7^ΔP17 is not rescued by ATP7^OHS.EGFP

(Mercer et al., 2017)

ATP7^ΔP17 is not rescued by ATP7^ALZ.EGFP

(Mercer et al., 2017)

ATP7^ΔP17 is not rescued by ATP7^DEL.EGFP

(Mercer et al., 2017)

Comments

The lethality, minimal post-hatching larval growth as well as defective development and pigmentation of larval mouthparts characteristic for ATP7^ΔP17/Y hemizygotes is fully rescued by combination with ATP7^{WT.T:Avic\GFP-EGFP} and partially so by combination with either ATP7^{WND.T:Avic\GFP-EGFP} or ATP7^{DMN.T:Avic\GFP-EGFP}. Combination with either ATP7^{DEL.T:Avic\GFP-EGFP} or ATP7^{OHS.T:Avic\GFP-EGFP} significantly improves the larval growth but no other defects and no rescue of any of the above-mentioned phenotype is observed upon combination with either ATP7^{MNK.T:Avic\GFP-EGFP} or ATP7^{ALZ.T:Avic\GFP-EGFP}.

(Mercer et al., 2017)

Expression of two copies of ATP7^Scer\UAS.cBa under the control of Scer\GAL4^ATP7.PB rescues the larval lethality associated with ATP7^ΔP17 mutant males. Rescue is significantly enhanced by raising the larvae on food supplemented with 1mM Cu. One copy of ATP7^Scer\UAS.cBa is insufficient for rescue.

Expression of two copies of ATP7^{Scer\UAS.T:Avic\GFP-EYFP} under the control of Scer\GAL4^ATP7.PB fails to rescue the larval lethality associated with ATP7^ΔP17 mutant males when raised on normal food. However escapers are seen when the larvae are raised on food supplemented with 1mM Cu.

(Burke et al., 2008)

Lethality due to ATP7^ΔP17/Y is rescued by ATP7^{Scer\UAS.T:Zzzz\FLAG}; Scer\GAL4^Act5C.PI.

(Norgate et al., 2006)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

ATP7^ΔP17

DmATP7^ΔP17

(Burke et al., 2008)

ΔATP7

(Mercer et al., 2017)

Name Synonyms

Secondary FlyBase IDs

References (3)

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