FlyBase Allele Report: Dmel\Mmp1[W439stop]

General Information

Symbol

Dmel\Mmp1^W439stop

Species

D. melanogaster

Name

FlyBase ID

FBal0150756

Feature type

allele

Associated gene

Dmel\Mmp1

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Page-McCaw et al., 2003)

Mutagen

ethyl methanesulfonate

(Page-McCaw et al., 2003)

Progenitor genotype

Cytology

Description

Nonsense mutation which causes a premature truncation of the Mmp1 hemopexin domain in the third of the 4 hemopexin loops.

(Glasheen et al., 2009)

Amino acid replacement: W439term.

(Page-McCaw et al., 2003)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:24,675,316..24,675,316 [-]

Nucleotide change:

G24675316A

Amino acid change:

Reported amino acid change:

W439term

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. The current annotation uses an upstream AUG 29aa upstream relative to previous reports. This accounts for the discrepency in the reported vs. annotated amino acid coordinate of the mutation.

(Page-McCaw et al., 2003)

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

decreased rate of movement | larval stage (with Mmp1^Q273stop), with Mmp1^E225A.f1.UAS

(Glasheen et al., 2009)

lethal | pupal stage

(Page-McCaw et al., 2003)

lethal | pupal stage (with Mmp1²)

(Page-McCaw et al., 2003)

lethal - all die before end of pupal stage

(Glasheen et al., 2009)

lethal - all die before end of pupal stage (with Mmp1^Q273stop)

(Glasheen et al., 2009)

lethal - all die before end of pupal stage (with Mmp1^Q273stop), with Mmp1^E225A.f1.UAS, Scer\GAL4^αTub84B.PL

(Glasheen et al., 2009)

lethal - all die before end of pupal stage (with Mmp1^Q273stop), with Mmp1^{Pro-pex.f1.UAS}, Scer\GAL4^αTub84B.PL

(Glasheen et al., 2009)

partially lethal - majority die | larval stage

(Page-McCaw et al., 2003)

partially lethal - majority die | larval stage (with Mmp1²)

(Page-McCaw et al., 2003)

some die during pupal stage

(Glasheen et al., 2009)

some die during pupal stage (with Mmp1^Q273stop)

(Glasheen et al., 2009)

some die during pupal stage (with Mmp1^Q273stop), with Mmp1^E225A.f1.UAS, Scer\GAL4^αTub84B.PL

(Glasheen et al., 2009)

some die during pupal stage (with Mmp1^Q273stop), with Mmp1^{Pro-pex.f1.UAS}, Scer\GAL4^αTub84B.PL

(Glasheen et al., 2009)

Phenotype Manifest In

embryonic/larval dorsal tracheal branch | third instar larval stage

(Glasheen et al., 2009)

embryonic/larval dorsal tracheal branch | third instar larval stage (with Mmp1^Q273stop)

(Glasheen et al., 2009)

embryonic/larval dorsal tracheal branch | third instar larval stage (with Mmp1^Q273stop), with Mmp1^E225A.f1.UAS, Scer\GAL4^αTub84B.PL

(Glasheen et al., 2009)

head | pupal stage

(Glasheen et al., 2009)

head | pupal stage (with Mmp1^Q273stop)

(Glasheen et al., 2009)

head | pupal stage (with Mmp1^Q273stop), with Mmp1^E225A.f1.UAS, Scer\GAL4^αTub84B.PL

(Glasheen et al., 2009)

head | pupal stage (with Mmp1^Q273stop), with Mmp1^{Pro-pex.f1.UAS}, Scer\GAL4^αTub84B.PL

(Glasheen et al., 2009)

wing | pupal stage

(Glasheen et al., 2009)

wing | pupal stage (with Mmp1^Q273stop)

(Glasheen et al., 2009)

wing | pupal stage (with Mmp1^Q273stop), with Mmp1^E225A.f1.UAS, Scer\GAL4^αTub84B.PL

(Glasheen et al., 2009)

wing | pupal stage (with Mmp1^Q273stop), with Mmp1^{Pro-pex.f1.UAS}, Scer\GAL4^αTub84B.PL

(Glasheen et al., 2009)

Detailed Description

Statement

Reference

7% of Mmp1^W439stop mutant third instar larvae display broken tracheal dorsal trunks. 23% survive to pupariation. Dissected pupae display wing and head eversion defects.

6% of Mmp1^Q273stop/Mmp1^W439stop transheterozygous mutant third instar larvae display broken tracheal dorsal trunks. 78% survive to pupariation. A small number of dissected pupae show defects in head eversion.

Very few Mmp1^Q273stop/Mmp1^W439stop transheterozygous mutant third instar larvae expressing Mmp1^{Pro-pex.f1.Scer\UAS} under the control of Scer\GAL4^αTub84B.PL display broken tracheal dorsal trunks. The majority of dissected pupae show defects in head eversion, and some animals show additional defects in wing eversion.

Expression of Mmp1^{E225A.f1.Scer\UAS} under the control of Scer\GAL4^αTub84B.PL strongly enhances the phenotype of Mmp1^Q273stop/Mmp1^W439stop transheterozygous mutant third instar larvae. 15% display broken tracheal dorsal trunks and appear sluggish, and the majority of dissected pupae show defects in wing and head eversion. These phenotypes are stronger than either Mmp1^Q273stop/Mmp1^W439stop or Scer\GAL4^αTub84B.PL driving Mmp1^{E225A.f1.Scer\UAS} alone.

(Glasheen et al., 2009)

73% of Mmp1^W439stop mutant animals survive to 3rd instar, 32% pupariate, but only 2% undergo head eversion, and none eclose. 90% of Mmp1^W439stop/Mmp1² animals survive to third instar, but only 10% pupariate, 2% undergo head eversion, and none eclose.

(Page-McCaw et al., 2003)

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

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Mmp1^W439*

(Glasheen et al., 2009)

Mmp1^W439stop

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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