FlyBase Allele Report: Dmel\phtm[E7]

General Information

Symbol

Dmel\phtm^E7

Species

D. melanogaster

Name

FlyBase ID

FBal0032436

Feature type

allele

Associated gene

Dmel\phtm

Associated Insertion(s)

Carried in Construct

Also Known As

phm^E7

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Eberl et al., 1992, Tearle and Nusslein-Volhard, 1987)

Progenitor genotype

Cytology

Description

Nucleotide substitution: C1049T.

(Niwa et al., 2004)

Amino acid replacement: Q286term.

(Niwa et al., 2004, Warren et al., 2004)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:18,687,282..18,687,282 [+]

Nucleotide change:

C18687282T

Reported nucleotide change:

C1049T

Amino acid change:

Q286term | phtm-PA; Q286term | phtm-PB

Reported amino acid change:

Q286term

(Niwa et al., 2004, Warren et al., 2004)

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

lethal | recessive

(Niwa et al., 2004)

lethal - all die during embryonic stage | recessive

(Eberl et al., 1992, Tearle and Nusslein-Volhard, 1987)

some die during embryonic stage | recessive

(Eberl et al., 1992, Tearle and Nusslein-Volhard, 1987)

Phenotype Manifest In

Detailed Description

Statement

Reference

Early mutant embryos are morphologically normal until approximately stage 14. At stages 15-16, abnormal morphogenetic movements that involve the failure of head involution and defects in dorsal closure become apparent and the embryos become compacted. The embryos have undifferentiated cuticle.

(Niwa et al., 2004)

Development of mutant embryos appears normal until about stage 14. At stages 15-16, abnormal morphogenetic movements become apparent, which involve defects in dorsal closure, failure of head involution and aberrant gut looping. When mutant embryos are collected over 12 hours and then allowed to develop for an additional 24 hours, normal germ band retraction is seen in 299 out of 300 embryos.

(Warren et al., 2004)

Mutants fail to make cuticle and show defects in morphogenetic movements during late embryogenesis that lead to a failure of head involution and defective midgut formation.

(Chavez et al., 2000)

Poorly differentiated cuticle lacking denticle bands, embryo is contracted posteriorly with a large opening in the head region. Germline clone analysis demonstrate maternal effect abnormal oogenesis.

(Eberl et al., 1992)

phm^E7 embryos have poorly differentiated cuticle and are contracted posteriorly.

(Tearle and Nusslein-Volhard, 1987)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

phtm^E7 has lethal | recessive phenotype, suppressible by Bmor\Cyp306a1^UAS.cNa/Scer\GAL4^Act5C.PI

(Niwa et al., 2004)

Phenotype Manifest In

Suppressed by

Statement

Reference

phtm^E7 has embryonic/first instar larval cuticle | embryonic stage phenotype, suppressible by tal^UAS.cKa/Scer\GAL4^pnr-MD237

(Gallois et al., 2024)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Expression of Bmor\Cyp306a1^Scer\UAS.cNa under the control of Scer\GAL4^Act5C.PI rescues the lethality of phm^E7 in first instar larvae and some of the rescued animals survive to adulthood.

(Niwa et al., 2004)

Complementation and Rescue Data

Rescued by

phtm^E7 is rescued by phtm^UAS.cNa/Scer\GAL4^Act5C.PI

(Niwa et al., 2004)

Comments

Images (0)

Mutant

Wild-type

Stocks (2)

2208

106740

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (5)

Reported As

Symbol Synonym

XE07

(Eberl et al., 1992)

phm^E7

(Gallois et al., 2024, Dib et al., 2021, Huynh et al., 2020, Huynh et al., 2018, Chanut-Delalande et al., 2014, Domanitskaya et al., 2014)

phm^XE07

phm^XE

(Chavoshi et al., 2010, Tearle and Nusslein-Volhard, 1987)

phtm^E7

Name Synonyms

Secondary FlyBase IDs

FBal0044251
FBal0044252

References (14)

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