FlyBase Allele Report: Dmel\pb[1]

General Information

Symbol

Dmel\pb¹

Species

D. melanogaster

Name

FlyBase ID

FBal0013505

Feature type

allele

Associated gene

Dmel\pb

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - genetic evidence

Mutagen

spontaneous

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Johnston et al., 1998, Cribbs et al., 1992)

Mutagen

spontaneous

Progenitor genotype

Cytology

Polytene chromosomes normal.

(Lewis et al., 1980)

Description

Amino acid replacement: L213Q.

(Tayyab et al., 2004)

Coordinates of the lesion are the position in the 2-μ-4a spliced form of pb.

(Tayyab et al., 2004)

Nucleotide substitution: T638A.

(Tayyab et al., 2004)

Nucleotide substitution: C1095T.

(Tayyab et al., 2004)

The nucleotide substitution T638A results in the amino acid replacement L213Q. The mutant allele also contains the silent nucleotide polymorphism C1095T.

(Tayyab et al., 2004)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:6,711,878..6,711,878 [-]

Nucleotide change:

T6711878A

Reported nucleotide change:

T638A

Amino acid change:

L213Q | pb-PA; L208Q | pb-PB; L208Q | pb-PC; L203Q | pb-PD

Reported amino acid change:

L213Q

Comment:

Reported coordinates are with respect to pb-RA and pb-PA.

(Tayyab 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 ( 1 )

Disease

Interaction

References

ameliorates Huntington's disease

modeled by Hsap\HTT^{Q138.UAS.mRFP1}

(Weiss et al., 2012)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

short lived

visible | heat sensitive

(Johnston et al., 1998, Percival-Smith et al., 1997)

visible | temperature conditional (with pb²⁰)

(Tayyab et al., 2004)

Phenotype Manifest In

arista | ectopic | temperature conditional (with pb²⁰)

(Tayyab et al., 2004)

labellum

(Johnston et al., 1998, Cribbs et al., 1992, Stocker, 1982, Lewis et al., 1980)

maxillary palp

(Johnston et al., 1998)

maxillary palp (with pb²⁰)

(Tayyab et al., 2004)

proboscis

(Percival-Smith et al., 1997)

proboscis | temperature conditional (with pb²⁰)

(Tayyab et al., 2004)

pseudotrachea | heat sensitive (with pb²⁰)

(Tayyab et al., 2004)

tarsal segment | ectopic | temperature conditional (with pb²⁰)

(Tayyab et al., 2004)

Detailed Description

Statement

Reference

pb¹/pb²⁰ flies raised at 23 or 29[o]C have a null mutant phenotype; the maxillary palps are vestigial, the proboscis is transformed into a pair of tarsi and the pseudotracheae are missing. pb¹/pb²⁰ flies raised at 18[o]C have a hypomorphic phenotype; the maxillary palps are vestigial, the proboscis is transformed into a pair of aristae, and the number of pseudotracheal rows is reduced to one or two.

(Tayyab et al., 2004)

Shows a labial palp to antenna transformation at 18^o and labial palp to leg transformation at 29^oC. pb¹/pb⁵ at 24^oC show distal labia transformed to a mixture of antenna and distal prothoracic legs. Of these 46% include claws and some display defined tarsal segments. These are never seen in any ct; pb/+ combinations. Maxillary palps of pb¹/pb⁵ are reduced in shape and ovoid, suggesting antennal transformation. This phenotype is not seen in ct; pb/+ combinations.

(Johnston et al., 1998)

The temperature sensitive period is between 65 and 100 hours after egg laying at 25^oC, which corresponds to late second/early third instar larval stage and when Scr activity is required for tarsus determination.

(Percival-Smith et al., 1997)

The labial palp is transformed to antenna or prothoracic leg, depending on the temperature.

(Cribbs et al., 1992)

The labial palps are transformed partially to antennal arista (containing 3 sensilla) and some spatially separated leg structures at 17^oC, and into tarsal structures only (with mechanosensory bristles) at 29^oC. The tarsal transformation is more complete in combination with ss^a. Two additional nerves branch off the labial nerve in the transformed arista, and sensory fibres are located abnormally.

(Stocker, 1982)

Transformation of labial palpus to prothoracic leg or antenna identity.

(Lewis et al., 1980)

18^oC --> antenna 29^oC --> leg Oral lobes changed to tarsus-like or arista-like appendages. Cold (15^oC) shifts expression toward aristalike, heat (29^o) toward tarsuslike (Villee, 1944). Temperature-sensitive period in last larval instar (Vogt, 1946, Z. Naturforsch. 1: 469-75). Very short lived because adults cannot feed. male fertile female sterile. Ovaries normal but few, if any, eggs formed (Beatty, 1949). RK2.

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

pb¹/pb[+] is a suppressor | partially of lethal | pharate adult stage phenotype of Hsap\HTT^{Q138.UAS.mRFP1}, Scer\GAL4^elav-C155

(Weiss et al., 2012)

Other

Statement

Reference

Scr⁴/Scr⁵, pb⁵/pb¹ has visible | homeotic phenotype

(Abzhanov et al., 2001)

Phenotype Manifest In

Other

Statement

Reference

Scr⁴/Scr⁵, pb⁵/pb¹ has proboscis phenotype

(Abzhanov et al., 2001)

Scr⁴/Scr⁵, pb⁵/pb¹ has antenna | ectopic phenotype

(Abzhanov et al., 2001)

Scr⁴/Scr⁵, pb⁵/pb¹ has arista | ectopic phenotype

(Abzhanov et al., 2001)

Scr⁴/Scr⁵, pb⁵/pb¹ has third segment of antenna | ectopic phenotype

(Abzhanov et al., 2001)

Scr⁴/Scr⁵, pb⁵/pb¹ has second segment of antenna | ectopic phenotype

(Abzhanov et al., 2001)

ct^L188, pb¹ has pseudotrachea phenotype

(Johnston et al., 1998)

ct^L188, pb¹ has labellum phenotype

(Johnston et al., 1998)

Additional Comments

Genetic Interactions

Statement

Reference

pb¹ Scr⁵/pb⁵ Scr⁴ flies show transformation of the proboscis into the antenna. The transformation varies from thick and shortened aristae with claws and pulvillae to apparently complete antennae with aristae, third and second antennal segments bearing characteristic bristles.

(Abzhanov et al., 2001)

Xenogenetic Interactions

Statement

Reference

One copy of pb¹ partially rescues the lethality seen when Hsap\HTT^{Q138.Scer\UAS.T:Disc\RFP-mRFP} is expressed under the control of Scer\GAL4^elav-C155 using the P{UAS-HTT.Q138.mRFP}A insertion line.

(Weiss et al., 2012)

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (5)