FlyBase Allele Report: Dmel\aph-1[D35]

General Information

Symbol

Dmel\aph-1^D35

Species

D. melanogaster

Name

FlyBase ID

FBal0039520

Feature type

allele

Associated gene

Dmel\aph-1

Associated Insertion(s)

Carried in Construct

Also Known As

aph1^D35

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Littleton and Bellen, 1994)

Progenitor genotype

Cytology

Description

The mutation results in truncation of aph-1 protein between transmembrane domains 3 and 4.

(Hu and Fortini, 2003)

Amino acid replacement: R99term.

(Hu and Fortini, 2003)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2L:2,766,609..2,766,609 [+]

Nucleotide change:

C2766609T

Amino acid change:

R99term | aph-1-PA; R99term | aph-1-PB

Reported amino acid change:

R99term

Comment:

Site of nucleic acid difference inferred by FlyBase based on reported amino acid change.

(Littleton and Bellen, 1994)

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 size | dominant

(Richardson and Pichaud, 2010)

lethal

(Stempfle et al., 2010, Hu and Fortini, 2003)

lethal | recessive

(Littleton and Bellen, 1994)

partially lethal, with Scer\GAL4^arm.PS, aph-1^UAS.Tag:V5

(Stempfle et al., 2010)

Phenotype Manifest In

eye

(Richardson and Pichaud, 2010, Hu and Fortini, 2003)

macrochaeta

(Hu and Fortini, 2003)

microchaeta

(Hu and Fortini, 2003)

presumptive embryonic/larval nervous system

(Hu and Fortini, 2003)

presumptive embryonic/larval nervous system | germline clone | maternal effect (with Df(2L)N6)

(Hu and Fortini, 2003)

sensory mother cell & dorsal mesothoracic disc

(Hu and Fortini, 2003)

wing

(Hu and Fortini, 2003)

Detailed Description

Statement

Reference

Flies heterozygous for aph-1^D35 have smaller eyes than wild-type flies.

(Richardson and Pichaud, 2010)

Expression of aph-1^{Scer\UAS.T:SV5\V5} under the control of Scer\GAL4^arm.PS partially rescues the lethality of aph-1^D35.

(Stempfle et al., 2010)

Embryos from adult females bearing aph-1^D35 germ-line clones lacking both maternal and zygotic aph-1 activity exhibit a N-like hyperplasia of the embryonic nervous system. Similarly, aph-1^D35 mutant wing discs contain clusters of supernumerary sensory organ precursor (SOP) cells, in addition to an overall developmental arrest phenotype. aph-1^D35/Df(2L)N6 embryos from adult females bearing aph-1^D35 germ-line clones exhibit hyperplasia of the embryonic nervous system. Similarly, aph-1^D35 mutant wing discs contain clusters of supernumerary sensory organ precursor (SOP) cells, in addition to an overall developmental arrest phenotype. aph-1^D35 homozygous mutant tissue exhibit N-like phenotypes, including notches and missing margin structures in the wing, thoracic cuticle regions lacking microchaetae, and small eyes with disordered ommatidial packing. Homozygous aph-1^D35 somatic clones, generated in heterozygous hosts exhibit phenotypes characteristic of impaired N function, including wing notching and bristle loss.

(Hu and Fortini, 2003)

Hemizygotes cause larval or pupal lethality.

(Littleton and Bellen, 1994)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

aph-1^D35 has abnormal size | dominant phenotype, suppressible by crb^11A22/crb[+]

(Richardson and Pichaud, 2010)

Suppressor of

Statement

Reference

aph-1^D35 is a suppressor of increased cell number | somatic clone phenotype of lace²

(Sasamura et al., 2013)

Phenotype Manifest In

Suppressed by

Statement

Reference

aph-1^D35 has eye phenotype, suppressible by crb^11A22/crb[+]

(Richardson and Pichaud, 2010)

aph-1^D35 has sensory mother cell & dorsal mesothoracic disc phenotype, suppressible by N^int.hs

(Hu and Fortini, 2003)

NOT suppressed by

Statement

Reference

aph-1^D35 has sensory mother cell & dorsal mesothoracic disc phenotype, non-suppressible by N^ECN.hs

(Hu and Fortini, 2003)

NOT Enhancer of

Statement

Reference

aph-1[+]/aph-1^D35 is a non-enhancer of phenotype of Psn⁹/Psn¹⁴³

(Mahoney et al., 2006)

Suppressor of

Statement

Reference

aph-1^D35 is a suppressor of wing disc posterior compartment | somatic clone phenotype of lace²

(Sasamura et al., 2013)

aph-1^D35 is a suppressor of phenotype of l(2)gd1^d7

(Schneider et al., 2013)

aph-1[+]/aph-1^D35 is a suppressor of phenotype of l(2)gd1^d7

(Schneider et al., 2013)

NOT Suppressor of

Statement

Reference

aph-1[+]/aph-1^D35 is a non-suppressor of phenotype of Psn⁹/Psn¹⁴³

(Mahoney et al., 2006)

aph-1^D35 is a non-suppressor of dorsal mesothoracic disc & sensory mother cell phenotype of N^int.hs

(Hu and Fortini, 2003)

Additional Comments

Genetic Interactions

Statement

Reference

aph-1^D35 strongly suppresses the overproliferation seen in lace² mutant wing disc clones.

(Sasamura et al., 2013)

The ectopic N activation phenotype (ectopic expression of Ecol\lacZ^{Ddc.be2.E(spl)m8-HLH}) in l(2)gd1^d7 wing disk clones is suppressed if cells are also mutant for aph-1^D35.

Heterozygosity for aph-1^D35suppresses the ectopic N activation phenotype (ectopic expression of wg) in l(2)gd1^d7 wing discs.

(Schneider et al., 2013)

Heterozygous crb^11A22 suppresses the aph-1^D35/+ small eye phenotype.

(Richardson and Pichaud, 2010)

N^ECN.hs mutants have no discernible inhibitory effect on sensory organ precursor cells in aph-1^D35 wing discs. N^int.hs mutants exhibit nearly complete sensory organ precursor cell inhibition in aph-1^D35 mutant wing discs.

(Hu and Fortini, 2003)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

aph-1^D35 is rescued by aph-1^UAS.Tag:V5/Scer\GAL4^{VP16.mat.αTub67C}

(Stempfle et al., 2010)

Partially rescued by

aph-1^D35 is partially rescued by Scer\GAL4^arm.PS/aph-1^UAS.Tag:V5

(Stempfle et al., 2010)

Comments

Expression of aph-1^{Scer\UAS.T:SV5\V5} under the control of Scer\GAL4^arm.PS partially rescues the lethality of aph-1^D35.

Expression of aph-1^{Scer\UAS.T:SV5\V5} under the control of Scer\GAL4^{mat.αTub67C.T:Hsim\VP16} rescues the lethality of aph-1^D35.

(Stempfle et al., 2010)

Images (0)

Mutant

Wild-type

Stocks (3)

Bloomington

63242

aph-1^D35 P{neoFRT}40A/CyO

63244

aph-1^D35/CyO; Psn^B3 Nct^J1/TM6B, Tb¹

3917

aph-1^D35 cn¹ bw¹ speck¹/In(2LR)Gla, wg^Gla-1

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (4)

Reported As

Symbol Synonym

aph-1^D35

(Restrepo et al., 2022, Yang and Deng, 2018, Gunawardena et al., 2013, Sasamura et al., 2013, Schneider et al., 2013, Haenfler et al., 2012, Mahoney et al., 2006)

aph1^D35

(Neuhaus-Follini and Bashaw, 2015, Richardson and Pichaud, 2010)

aph1D35

(Stempfle et al., 2010)

l(2)23AB6^D35

(Littleton and Bellen, 1994)

Name Synonyms

Secondary FlyBase IDs

References (13)

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