FlyBase Allele Report: Dmel\Aldo[m4]

General Information

Symbol

Dmel\Aldo^m4

Species

D. melanogaster

Name

FlyBase ID

FBal0283004

Feature type

allele

Associated gene

Dmel\Aldo

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - molecular evidence

hypomorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Miller et al., 2012)

hypomorphic allele - molecular evidence

(Miller et al., 2012)

Mutagen

ethyl methanesulfonate

(Miller et al., 2012)

Progenitor genotype

Cytology

Description

Amino acid replacement: R60H.

(Miller et al., 2012)

Nucleotide substitution: G179A.

(Miller et al., 2012)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:26,257,842..26,257,842 [-]

Nucleotide change:

G26257842A

Reported nucleotide change:

G179A

Amino acid change:

Reported amino acid change:

R60H

(Miller et al., 2012)

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

abnormal neuroanatomy | progressive (with Df(3R)BSC496)

(Miller et al., 2012)

abnormal neuroanatomy | progressive (with Df(3R)BSC512)

(Miller et al., 2012)

abnormal neuroanatomy | progressive (with Df(3R)Exel6204)

(Miller et al., 2012)

abnormal neuroanatomy | progressive | recessive

(Miller et al., 2012)

paralytic | heat sensitive (with Df(3R)BSC496)

(Miller et al., 2012)

paralytic | heat sensitive (with Df(3R)BSC512)

(Miller et al., 2012)

paralytic | heat sensitive (with Df(3R)Exel6204)

(Miller et al., 2012)

paralytic | heat sensitive (with Df(3R)Tl-P)

(Miller et al., 2012)

paralytic | recessive | heat sensitive

(Miller et al., 2012)

short lived (with Df(3R)BSC496)

(Miller et al., 2012)

short lived (with Df(3R)BSC512)

(Miller et al., 2012)

short lived (with Df(3R)Exel6204)

(Miller et al., 2012)

short lived | recessive

(Miller et al., 2012)

Phenotype Manifest In

adult brain | progressive

(Miller et al., 2012)

adult optic lobe | progressive

(Miller et al., 2012)

Detailed Description

Statement

Reference

Homozygotes show progressive, age-dependent neurodegeneration (vacuolar pathology is seen in the central brain and optic lobes).

Homozygotes are short lived: the survival midpoint is reduced from 30 to 10 days at 29[o]C. Ald^m4/Df(3R)BSC496, Ald^m4/Df(3R)BSC512 and Ald^m4/Df(3R)Exel6204 heterozygotes are also short lived.

Homozygotes become uncoordinated after 1 minute at 37.5[o]C, are immobilised within 4 minutes and are fully motionless within 8 minutes. Recovery to full mobility begins within minutes if the paralysed flies are returned to room temperature.

Homozygotes have an approximately 50% reduction in steady-state ATP levels compared to wild type.

(Miller et al., 2012)

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

Rescued by

Aldo^m4 is rescued by Aldo^CH322-98F06

(Miller et al., 2012)

Partially rescued by

Aldo^m4 is partially rescued by Scer\GAL4^Tub.PU/Aldo^UAS.cMa

(Miller et al., 2012)

Aldo^m4 is partially rescued by Scer\GAL4^elav-C155/Aldo^UAS.cMa

(Miller et al., 2012)

Aldo^m4 is partially rescued by Scer\GAL4^repo-M1B/Aldo^UAS.cMa

(Miller et al., 2012)

Comments

Expression of Ald^Scer\UAS.cMa under the control of Scer\GAL4^tub.PU fully rescue the temperature sensitive paralysis phenotype and significantly (but not completely) rescues the lifespan and neurodegeneration defects of Ald^m4 homozygotes.

Expression of Ald^Scer\UAS.cMa under the control of Scer\GAL4^repo-M1B does not rescue the shortened lifespan of Ald^m4 homozygotes, while the neurodegeneration defect is substantially rescued.

Expression of Ald^Scer\UAS.cMa under the control of Scer\GAL4^elav-C155 significantly (but not completely) rescues the shortened lifespan and substantially rescues the neurodegeneration defects of Ald^m4 homozygotes.

(Miller et al., 2012)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (4)

Reported As

Symbol Synonym

Ald1^m4

Ald^m4

(Miller et al., 2012)

Aldo^m4

(Miller et al., 2012)

Name Synonyms

Secondary FlyBase IDs

References (1)

Report Sections

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