FlyBase Allele Report: Dmel\Su(H)[T4]

General Information

Symbol

Dmel\Su(H)^T4

Species

D. melanogaster

Name

FlyBase ID

FBal0034031

Feature type

allele

Associated gene

Dmel\Su(H)

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - molecular evidence

gain of function allele

antimorphic allele - genetic evidence

hypomorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

antimorphic allele - genetic evidence

(Gagliani et al., 2022)

gain of function allele

(Fortini and Artavanis-Tsakonas, 1994)

hypomorphic allele - genetic evidence

(Schweisguth and Lecourtois, 1998)

hypomorphic allele - molecular evidence

(Gagliani et al., 2022)

Mutagen

ethyl methanesulfonate

(Ashburner et al., 1999.10.12, Fortini and Artavanis-Tsakonas, 1994)

Progenitor genotype

Cytology

Description

Amino acid replacement: E137V.

(Gagliani et al., 2022, Pierce et al., 2010.8.10)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2L:15,041,120..15,041,120 [+]

Nucleotide change:

A15041120T

Amino acid change:

E137V | Su(H)-PA; E137V | Su(H)-PC

Reported amino acid change:

E137V

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Gagliani et al., 2022, Pierce et al., 2010.8.10)

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 ( 1 )

Disease

Evidence

References

model of Adams-Oliver syndrome

CEA

(Gagliani et al., 2022)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of Adams-Oliver syndrome

is ameliorated by Su(H)^{sfGFP,Tag:FLAG}

(Gagliani et al., 2022)

is ameliorated by N^{sfGFP,Tag:FLAG}

(Gagliani et al., 2022)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Gagliani et al., 2022)

RBPJ:p.Glu63Gly

(FlyBase curators, 2019-)

Variants Synonym(s)

RBPJ:p.Glu50Gly

RBPJ:p.Glu48Gly

RBPJ:p.Glu28Gly

RBPJ:p.Glu49Gly

Associated human disease model(s)

Adams-Oliver syndrome 3

External database links

ClinVar: 37053

Comments concerning this variant

Phenotypic Data

Phenotypic Class

visible | recessive | somatic clone

(Schweisguth and Lecourtois, 1998)

Phenotype Manifest In

macrochaeta | somatic clone

(Schweisguth and Lecourtois, 1998)

mesothoracic tergum & sensory organ cell & pupa | somatic clone

(Schweisguth and Lecourtois, 1998)

sensory organ cell | P-stage | somatic clone

(Schweisguth and Lecourtois, 1998)

Detailed Description

Statement

Reference

Homozygous clones produce "loss of bristle" and "multiple shaft" cuticular phenotypes. Homozygous clones in the pupal notum have an excess of sensory organ cells.

(Schweisguth and Lecourtois, 1998)

No effect on the faf eye phenotype.

(Huang and Fischer-Vize, 1996)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

Su(H)^T4 is an enhancer of visible phenotype of N^act.sev

(Matsuno et al., 1997)

Suppressor of

Statement

Reference

Su(H)[+]/Su(H)^T4 is a suppressor of visible | recessive phenotype of dx¹⁵²

(Fuwa et al., 2006)

Other

Statement

Reference

Su(H)[+]/Su(H)^T4, dx¹⁵² has partially lethal - majority die phenotype

(Fuwa et al., 2006)

Df(1)N-54l9/+, Su(H)^T4 has lethal phenotype

(Fortini and Artavanis-Tsakonas, 1994)

Phenotype Manifest In

Enhanced by

Statement

Reference

Su(H)^T4 has phenotype, enhanceable by M285^M285

(Go and Artavanis-Tsakonas, 1998)

Su(H)^T4 has phenotype, enhanceable by mam^eA1

(Verheyen et al., 1996)

Su(H)^T4 has phenotype, enhanceable by mam^eA6

(Verheyen et al., 1996)

Su(H)^T4 has phenotype, enhanceable by mam^eAO1

(Verheyen et al., 1996)

Su(H)^T4 has phenotype, enhanceable by mam^eC16

(Verheyen et al., 1996)

Su(H)^T4 has phenotype, enhanceable by mam^eF14

(Verheyen et al., 1996)

Enhancer of

Statement

Reference

Su(H)[+]/Su(H)^T4 is an enhancer of wing phenotype of dx¹⁵²

(Fuwa et al., 2006)

Su(H)^T4 is an enhancer of photoreceptor cell R7 phenotype of N^act.sev

(Matsuno et al., 1997)

Su(H)^T4 is an enhancer of photoreceptor cell R3 phenotype of N^act.sev

(Matsuno et al., 1997)

Su(H)^T4 is an enhancer of photoreceptor cell R4 phenotype of N^act.sev

(Matsuno et al., 1997)

Su(H)^T4 is an enhancer of phenotype of mam¹⁰

(Fortini and Artavanis-Tsakonas, 1994)

Su(H)^T4 is an enhancer of phenotype of H¹

(Fortini and Artavanis-Tsakonas, 1994)

Other

Statement

Reference

Su(H)[+]/Su(H)^T4, dx¹⁵² has prothoracic tarsal segment 4 phenotype

(Fuwa et al., 2006)

Su(H)[+]/Su(H)^T4, dx¹⁵² has prothoracic tarsal segment 5 phenotype

(Fuwa et al., 2006)

Additional Comments

Genetic Interactions

Statement

Reference

Su(H)^T4/+ enhances the wing notching defects of dx¹⁵² hemizygotes. The double mutants show semi-lethality. Fusion of the fourth and fifth tarsal segments of the forelegs is seen in 60% of escapers, a phenotype that is not seen in either dx¹⁵² hemizygotes or Su(H)^T4/+ animals.

(Fuwa et al., 2006)

Mutation has no detectable effect on the rough eye phenotypes of N^ANK.sev.

(Matsuno et al., 1997)

Heterozygotes for mam¹⁰ also heterozygous for Su(H)^T4 show wing nicks. Su(H)^T4 dominantly suppresses the lethality of N^Ax-E2/N^Ax-9 transheterozygotes. Female heterozygotes show lethal interaction in combination with heterozygous Df(1)N-54l9.

(Fortini and Artavanis-Tsakonas, 1994)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

63234

Su(H)^T4/CyO

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Su(H)^T4

(Gagliani et al., 2022, Sachan et al., 2015, Pierce et al., 2010.8.10, Fuwa et al., 2006)

Su(H)T4

(Singh et al., 2019)

Name Synonyms

Secondary FlyBase IDs

References (14)

Report Sections

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