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General Information
Symbol
Hsap\RALAG23V.GMR
Species
H. sapiens
Name
FlyBase ID
FBal0104770
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Allele class
Nature of the Allele
Allele class
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Carried in construct
Cytology
Nature of the lesion
Statement
Reference

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

Allele components
Product class / Tool use(s)
Encoded product / tool
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 )
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Flies carrying Hsap\RALAG23V.GMR have eyes with abnormal external morphology, with the phenotype being more severe if they carry two copies rather than one copy of Hsap\RALAG23V.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\RALAG23V.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\RALAG23V.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\RALAG23V.GMR. The retina is nearly normal in flies carrying one copy of Hsap\RALAG23V.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.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Enhanced by
Statement
Reference
Phenotype Manifest In
Enhanced by
Statement
Reference
NOT Enhanced by
Statement
Reference

Hsap\RALAG23V.GMR has phenotype, non-enhanceable by Dsor1unspecified

Hsap\RALAG23V.GMR has phenotype, non-enhanceable by bskunspecified

Hsap\RALAG23V.GMR has phenotype, non-enhanceable by Rho1unspecified

Hsap\RALAG23V.GMR has phenotype, non-enhanceable by Cdc42unspecified

Hsap\RALAG23V.GMR has phenotype, non-enhanceable by nmounspecified

Hsap\RALAG23V.GMR has phenotype, non-enhanceable by hepunspecified

Hsap\RALAG23V.GMR has phenotype, non-enhanceable by Ras85Dunspecified

Hsap\RALAG23V.GMR has phenotype, non-enhanceable by Rafunspecified

Hsap\RALAG23V.GMR has phenotype, non-enhanceable by rlunspecified

NOT suppressed by
Statement
Reference

Hsap\RALAG23V.GMR has phenotype, non-suppressible by Rho1unspecified

Hsap\RALAG23V.GMR has phenotype, non-suppressible by Cdc42unspecified

Hsap\RALAG23V.GMR has phenotype, non-suppressible by nmounspecified

Hsap\RALAG23V.GMR has phenotype, non-suppressible by hepunspecified

Hsap\RALAG23V.GMR has phenotype, non-suppressible by Ras85Dunspecified

Hsap\RALAG23V.GMR has phenotype, non-suppressible by Rafunspecified

Hsap\RALAG23V.GMR has phenotype, non-suppressible by rlunspecified

Hsap\RALAG23V.GMR has phenotype, non-suppressible by Dsor1unspecified

Hsap\RALAG23V.GMR has phenotype, non-suppressible by bskunspecified

Additional Comments
Genetic Interactions
Statement
Reference
Xenogenetic Interactions
Statement
Reference

The Hsap\RALAG23V.GMR eye phenotype is enhanced by Rho1GMR.PH; flies carrying one copy of either Hsap\RALAG23V.GMR or Rho1GMR.PH have a mild rough eye phenotype, while flies carrying both Hsap\RALAG23V.GMR and Rho1GMR.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.

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\RALAG23V.GMR
Name Synonyms
Secondary FlyBase IDs
    References (2)