FlyBase Allele Report: Dmel\ari-1[D]

General Information

Symbol

Dmel\ari-1^D

Species

D. melanogaster

Name

FlyBase ID

FBal0343286

Feature type

allele

Associated gene

Dmel\ari-1

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

antimorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

antimorphic allele - genetic evidence

(Tan et al., 2018)

Mutagen

ethyl methanesulfonate

(Tan et al., 2018)

Progenitor genotype

Cytology

Description

Amino acid replacement: C223S.

(Tan et al., 2018)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:18,134,123..18,134,123 [-]

Nucleotide change:

T18134123A

Amino acid change:

Reported amino acid change:

C223S

Comment:

T to A nucleotide change at the first position or a G to C change at the second position of the Cys codon leads to a Ser (exact site of mutation unspecified). The mutation has been annotated at the first nucleotide of the codon.

(Tan et al., 2018)

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 neurophysiology | adult stage | somatic clone

(Tan et al., 2018)

abnormal size | recessive | third instar larval stage

(Tan et al., 2018)

abnormal size | third instar larval stage (with ari-1^A)

(Tan et al., 2018)

abnormal size | third instar larval stage (with ari-1^B)

(Tan et al., 2018)

lethal - all die before end of pupal stage | recessive

(Tan et al., 2018)

partially lethal - majority die (with Df(1)BSC352)

(Tan et al., 2018)

short lived (with ari-1^A)

(Tan et al., 2018)

short lived (with ari-1^B)

(Tan et al., 2018)

short lived (with Df(1)BSC352)

(Tan et al., 2018)

Phenotype Manifest In

embryonic/larval hypodermal muscle cell | third instar larval stage

(Tan et al., 2018)

embryonic/larval hypodermal muscle cell | third instar larval stage (with ari-1^A)

(Tan et al., 2018)

embryonic/larval hypodermal muscle cell | third instar larval stage (with ari-1^B)

(Tan et al., 2018)

embryonic/larval hypodermal muscle cell | third instar larval stage (with Df(1)BSC352)

(Tan et al., 2018)

eye | adult stage | somatic clone

(Tan et al., 2018)

macrochaeta

(Tan et al., 2018)

microchaeta

(Tan et al., 2018)

nuclear envelope | third instar larval stage

(Tan et al., 2018)

nuclear envelope | third instar larval stage (with ari-1^A)

(Tan et al., 2018)

nuclear envelope | third instar larval stage (with ari-1^B)

(Tan et al., 2018)

nucleus | third instar larval stage

(Tan et al., 2018)

nucleus | third instar larval stage (with ari-1^A)

(Tan et al., 2018)

nucleus | third instar larval stage (with ari-1^B)

(Tan et al., 2018)

nucleus | third instar larval stage (with Df(1)BSC352)

(Tan et al., 2018)

Detailed Description

Statement

Reference

The few ari-1^B/ari-1^D and ari-1^A/ari-1^D transheterozygous escapers are short lived; ari-1^D escapers also display thin macro and microchaeta.

ari-1^D homozygous clones in mosaic individuals can reach large sizes in various tissues; eye clones show synaptic transmission defects (i.e. reduced ON transients but normal amplitude in electroretinograms).

Body wall muscles in ari-1^D/Df(1)BSC352 transheterozygous and ari-1^D homo/heterozygous third instar larvae frequently show nuclei clustering together or in contact with each other; ari-1^D homozygous larvae, however, do not show significant changes in myonuclear number. In the ari-1^D/ari-1^A transheterozygous and ari-1^D/ari-1^B transheterozygous backgrounds, these nuclei exhibit a smaller size and an irregular shape (uneven nuclear envelope), are displaced from the cell membrane, and do not seem to be surrounded by a cytoskeletal network.