FlyBase Allele Report: Dmel\hll[1]

General Information

Symbol

Dmel\hll¹

Species

D. melanogaster

Name

FlyBase ID

FBal0319830

Feature type

allele

Associated gene

Dmel\hll

Associated Insertion(s)

Carried in Construct

Also Known As

dbb¹

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - molecular evidence

Mutagen

ends-out gene targeting

Nature of the Allele

Allele class

amorphic allele - molecular evidence

(Sivachenko et al., 2016)

Mutagen

ends-out gene targeting

(Sivachenko et al., 2016)

Progenitor genotype

Cytology

Description

Deletion of the 5' two-thirds of the hll coding region.

(Sivachenko et al., 2016)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

2L:14,026,943..14,028,336 [+]

Comment:

2/3 of the hll coding region has been replaced with the white gene by targeted homologous recombination.

(Sivachenko et al., 2016)

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 adrenoleukodystrophy

CEA with bgm¹

(Sivachenko et al., 2016)

CEA

(Gordon et al., 2018)

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

abnormal locomotor behavior | adult stage

(Sivachenko et al., 2016)

abnormal neuroanatomy | adult stage

(Sivachenko et al., 2016)

short lived

(Sivachenko et al., 2016)

viable

(Sivachenko et al., 2016)

Phenotype Manifest In

basement membrane | adult stage

(Sivachenko et al., 2016)

lamina

(Sivachenko et al., 2016)

lamina monopolar neuron

(Sivachenko et al., 2016)

retina

(Sivachenko et al., 2016)

Detailed Description

Statement

Reference

hll¹ flies present with holes in the retina and disrupted pigment cells between ommatidia. This phenotype is reduced in flies raised in constant dark and exacerbated under constant light conditions.

(Gordon et al., 2018)

hll¹/hll¹ mutant flies exhibit degeneration of the lamina, as assayed by holes in the optic ganglion at 18 days old, but these holes are not seen in newly eclosed flies; retinal degeneration; and thinning and irregularity of the fenestrated membrane between the retina and lamina, show retinal holes, thinning and irregularity of the fenestrated membrane between the retina and lamina, disarray of the ommatidial structure not visible in newly eclosed flies but apparent at day 20, disorganization of photoreceptor axons in the lamina, cell death of monopolar neurons, decreased locomotor activity not evident in newly eclosed flies but apparent by 7 days, a small decrease in lifespan, but no evidence of increased lipid accumulation in the larval gut, as compared with wild type. These mutants do not exhibit a rough eye phenotype.

(Sivachenko et al., 2016)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

hll¹ has abnormal neuroanatomy | adult stage phenotype, enhanceable by bgm¹/bgm¹

(Sivachenko et al., 2016)

NOT Enhanced by

Statement

Reference

hll¹ has abnormal locomotor behavior | adult stage phenotype, non-enhanceable by bgm¹/bgm¹

(Sivachenko et al., 2016)

hll¹ has short lived phenotype, non-enhanceable by bgm¹/bgm¹

(Sivachenko et al., 2016)

Enhancer of

Statement

Reference

hll¹/hll¹ is an enhancer of abnormal neuroanatomy | adult stage phenotype of bgm¹

(Sivachenko et al., 2016)

Other

Statement

Reference

bgm¹, hll¹ has viable phenotype

(Sivachenko et al., 2016)

Phenotype Manifest In

Enhanced by

Statement

Reference

hll¹ has basement membrane | adult stage phenotype, enhanceable by bgm¹/bgm¹

(Sivachenko et al., 2016)

hll¹ has lamina phenotype, enhanceable by bgm¹/bgm¹

(Sivachenko et al., 2016)

hll¹ has retina phenotype, enhanceable by bgm¹/bgm¹

(Sivachenko et al., 2016)

Enhancer of

Statement

Reference

hll¹/hll¹ is an enhancer of lamina phenotype of bgm¹

(Sivachenko et al., 2016)

NOT Enhancer of

Statement

Reference

hll¹/hll¹ is a non-enhancer of basement membrane | adult stage phenotype of bgm¹

(Sivachenko et al., 2016)

hll¹/hll¹ is a non-enhancer of retina phenotype of bgm¹

(Sivachenko et al., 2016)

Other

Statement

Reference

bgm¹, hll¹ has ommatidium phenotype

(Sivachenko et al., 2016)

bgm¹, hll¹ has secondary pigment cell phenotype

(Sivachenko et al., 2016)

bgm¹, hll¹ has lamina monopolar neuron phenotype

(Sivachenko et al., 2016)

bgm¹, hll¹ has embryonic/larval gut | larval stage phenotype

(Sivachenko et al., 2016)

Additional Comments

Genetic Interactions

Statement

Reference

bgm¹/bgm¹, hll¹/hll¹ double mutants exhibit more severe degeneration of the lamina, as assayed by holes in the optic ganglion at 18 days old, than either single mutant, and degeneration of the retina and fenestrated membrane structure was more severe in double mutants than hll¹/hll¹ single mutants, but not statistically different from bgm¹/bgm¹ single mutants. bgm¹/bgm¹, hll¹/hll¹ double mutants show retinal holes, thinning and irregularity of the fenestrated membrane between the retina and lamina, disarray of the ommatidial structure not visible in newly eclosed flies but apparent at day 20, and loss of monopolar neurons (often associated with abnormal extracellular precipitates), loss of secondary pigment cells, decreased locomotor activity to a similar degree as single mutants, a small decrease in lifespan, evidence of increased lipid accumulation in the larval gut, but not in the adult eye, as compared to wild type. These mutants do not exhibit a rough eye phenotype.

(Sivachenko et al., 2016)

Xenogenetic Interactions

Statement

Reference

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 (2)

Reported As

Symbol Synonym

dbb¹

(Gordon et al., 2018, Sivachenko et al., 2016)

hll¹

Name Synonyms

Secondary FlyBase IDs

References (2)

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