FlyBase Allele Report: Hsap\RALA[G23V.GMR]

General Information

Symbol

Hsap\RALA^G23V.GMR

Species

H. sapiens

Name

FlyBase ID

FBal0104770

Feature type

allele

Associated gene

Hsap\RALA

Associated Insertion(s)

Carried in Construct

P{GMR-Hsap\RALA.G23V}

Key Links

Transgenic product class

missense_variant

(Sawamoto et al., 1999)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Sawamoto et al., 1999)

Mutagen

in vitro construct

(Sawamoto et al., 1999)

Progenitor genotype

Carried in construct

P{GMR-Hsap\RALA.G23V}

Cytology

Description

GMR regulatory sequences drive expression of Hsap\RALA with the amino acid replacement: G23V. This encodes a constitutively active form of Hsap\RALA.

(Sawamoto et al., 1999)

Allele components

Component

Use(s)

Regulatory region(s)

GMR

engineered transcription regulatory region

Encoded product / tool

Hsap\RALA

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

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

visible

(Sawamoto et al., 1999)

Phenotype Manifest In

cone cell

(Sawamoto et al., 1999)

eye

(Sawamoto et al., 1999)

eye photoreceptor cell

(Sawamoto et al., 1999)

ommatidial precursor cluster

(Sawamoto et al., 1999)

ommatidium

(Sawamoto et al., 1999)

ommatidium & actin filament

(Sawamoto et al., 1999)

pigment cell

(Sawamoto et al., 1999)

pigment cell & actin filament

(Sawamoto et al., 1999)

primary pigment cell

(Sawamoto et al., 1999)

rhabdomere

(Sawamoto et al., 1999)

secondary pigment cell

(Sawamoto et al., 1999)

tertiary pigment cell

(Sawamoto et al., 1999)

Detailed Description

Statement

Reference

Flies carrying Hsap\RALA^G23V.GMR have eyes with abnormal external morphology, with the phenotype being more severe if they carry two copies rather than one copy of Hsap\RALA^G23V.GMR. The orientation of the ommatidia is irregular, although most ommatidia contain the normal number of photoreceptor rhabdomeres. A severe loss of rhabdomeres and pigmented lattices is seen in flies carrying two copies of Hsap\RALA^G23V.GMR. These defects are seen in flies immediately after eclosion, indicating that these defects are not likely to be caused by retinal degeneration. The initial stage of neuronal differentiation in the eye disc in third instar larvae is not disturbed in flies carrying two copies of Hsap\RALA^G23V.GMR. At 40 hours after puparium formation (APF) the normal spacing pattern of the ommatidia is disrupted compared to wild type. The number of cone cells and primary pigment cells appears normal, but the arrangement of the cells in the ommatidia is highly disorganised. Secondary and tertiary pigment cells are misshapen compared to wild-type cells at 40 hours APF. More filamentous actin bundles are seen in the ommatidia, especially in the pigment cells. The shapes of the photoreceptor cells and their rhabdomeres is disrupted. Swollen pigment cells are visible between the photoreceptor cells, suggesting that the spreading of cells is impaired. At the basal surface of the wild-type retina, secondary pigment cells elongate radially and form a "petal" pattern with tertiary pigment cells and bristles. This "petal" pattern is highly disorganised in the retina of flies carrying Hsap\RALA^G23V.GMR. The retina is nearly normal in flies carrying one copy of Hsap\RALA^G23V.GMR; pigment cells extending along and surrounding the rhabdomeres are seen in longitudinal sections and at the floor of the retina a layer of pigment cell feet is seen.

(Sawamoto et al., 1999)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\RALA^G23V.GMR has visible phenotype, enhanceable by Rho1^GMR.PH

(Sawamoto et al., 1999)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\RALA^G23V.GMR has eye phenotype, enhanceable by Rho1^GMR.PH

(Sawamoto et al., 1999)

Hsap\RALA^G23V.GMR has ommatidium phenotype, enhanceable by Rho1^GMR.PH

(Sawamoto et al., 1999)

NOT Enhanced by

Statement

Reference

Hsap\RALA^G23V.GMR has phenotype, non-enhanceable by Dsor1^unspecified

(Sawamoto et al., 1999)

Hsap\RALA^G23V.GMR has phenotype, non-enhanceable by bsk^unspecified

(Sawamoto et al., 1999)

Hsap\RALA^G23V.GMR has phenotype, non-enhanceable by Rho1^unspecified

(Sawamoto et al., 1999)

Hsap\RALA^G23V.GMR has phenotype, non-enhanceable by Cdc42^unspecified

(Sawamoto et al., 1999)

Hsap\RALA^G23V.GMR has phenotype, non-enhanceable by nmo^unspecified

(Sawamoto et al., 1999)

Hsap\RALA^G23V.GMR has phenotype, non-enhanceable by hep^unspecified

(Sawamoto et al., 1999)

Hsap\RALA^G23V.GMR has phenotype, non-enhanceable by Ras85D^unspecified

(Sawamoto et al., 1999)

Hsap\RALA^G23V.GMR has phenotype, non-enhanceable by Raf^unspecified

(Sawamoto et al., 1999)

Hsap\RALA^G23V.GMR has phenotype, non-enhanceable by rl^unspecified

(Sawamoto et al., 1999)

NOT suppressed by

Statement

Reference

Hsap\RALA^G23V.GMR has phenotype, non-suppressible by Rho1^unspecified

(Sawamoto et al., 1999)

Hsap\RALA^G23V.GMR has phenotype, non-suppressible by Cdc42^unspecified

(Sawamoto et al., 1999)

Hsap\RALA^G23V.GMR has phenotype, non-suppressible by nmo^unspecified

(Sawamoto et al., 1999)

Hsap\RALA^G23V.GMR has phenotype, non-suppressible by hep^unspecified

(Sawamoto et al., 1999)

Hsap\RALA^G23V.GMR has phenotype, non-suppressible by Ras85D^unspecified

(Sawamoto et al., 1999)

Hsap\RALA^G23V.GMR has phenotype, non-suppressible by Raf^unspecified

(Sawamoto et al., 1999)

Hsap\RALA^G23V.GMR has phenotype, non-suppressible by rl^unspecified

(Sawamoto et al., 1999)

Hsap\RALA^G23V.GMR has phenotype, non-suppressible by Dsor1^unspecified

(Sawamoto et al., 1999)

Hsap\RALA^G23V.GMR has phenotype, non-suppressible by bsk^unspecified

(Sawamoto et al., 1999)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The Hsap\RALA^G23V.GMR eye phenotype is enhanced by Rho1^GMR.PH; flies carrying one copy of either Hsap\RALA^G23V.GMR or Rho1^GMR.PH have a mild rough eye phenotype, while flies carrying both Hsap\RALA^G23V.GMR and Rho1^GMR.PH have extremely rough eyes with a glossy appearance due to the fusion of facets. A thin layer of pigment cells is seen in the apical region of the retina and no recognisable ommatidia can be seen.

(Sawamoto et al., 1999)

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (1)

Reported As

Symbol Synonym

Hsap\RALA^G23V.GMR

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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