FlyBase Allele Report: Dmel\TfAP-2[9]

General Information

Symbol

Dmel\TfAP-2⁹

Species

D. melanogaster

Name

FlyBase ID

FBal0123327

Feature type

allele

Associated gene

Dmel\TfAP-2

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

(Monge et al., 2001)

Mutagen

ethyl methanesulfonate

(Monge et al., 2001)

Progenitor genotype

Cytology

Description

Nucleotide substitution: GG to AG creating a new splice acceptor in intron 2.

(Monge et al., 2001)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3L:21,609,707..21,609,707 [+]

Nucleotide change:

G21609707A

Reported nucleotide change:

G?A

Amino acid change:

G99S | TfAP-2-PD; G95S | TfAP-2-PE; G93S | TfAP-2-PF

Comment:

Nucleotide substitution: GG to AG, creating a new splice acceptor. Nucleotide position inferred by curator from FBrf0134567.

(Mitchell, 2004.1.20, Monge et al., 2001)

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

(Monge et al., 2001)

some die during immature adult stage | recessive

(Monge et al., 2001)

uncoordinated | adult stage | recessive

(Monge et al., 2001)

viable (with TfAP-2⁸)

(Monge et al., 2001)

Phenotype Manifest In

adult sense organ | ectopic (with TfAP-2⁸)

(Monge et al., 2001)

eye (with TfAP-2⁸)

(Monge et al., 2001)

leg

(Monge et al., 2001)

leg joint

(Monge et al., 2001)

leg joint (with TfAP-2⁸)

(Monge et al., 2001)

proboscis

(Monge et al., 2001)

Detailed Description

Statement

Reference

Pharate pupae and the few eclosing adults show a short leg phenotype. Leg length = 90-95% wild type. All joints are present, but frequently necrotic. Hemizygous adults are uncoordinated, drag their posterior legs, stumble, and have difficulty righting. The proboscis defect is very mild. Heterozygotes with AP-2⁸ have normal or nearly normal legs and moderate incidences of necrotic joints and ectopic cuticular elements with sensory structures that invade medioventral eye territory.

(Monge et al., 2001)

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

Partially complements

TfAP-2⁸

(Monge et al., 2001)

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

23719

y¹ w^*; P{Car20y}73C TfAP-2⁹ P{neoFRT}80B/TM6C, Sb¹ Tb¹

Notes on Origin

Discoverer

Comments

Alleles fall into an allelic series based on leg length defect. In order of decreasing severity of phenotype: AP-2² = AP-2³ = AP-2⁴ = AP-2⁵ = AP-2¹³ = AP-2¹⁴ = AP-2¹⁵ = AP-2¹⁶ = AP-2¹⁹ > AP-2⁸ = AP-2¹² > AP-2¹¹ > AP-2¹⁷ > AP-2¹⁸ > AP-2¹⁰ = AP-2⁹.

(Monge et al., 2001)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

AP-2⁹

TfAP-2⁹

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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