FlyBase Allele Report: Dmel\rumi[79]

General Information

Symbol

Dmel\rumi⁷⁹

Species

D. melanogaster

Name

FlyBase ID

FBal0216683

Feature type

allele

Associated gene

Dmel\rumi

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

Progenitor genotype

Cytology

Description

Amino acid replacement: G189E.

(Acar et al., 2008)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:22,749,909..22,749,909 [-]

Nucleotide change:

G22749909A

Amino acid change:

G189E | rumi-PA; G94E | rumi-PB

Reported amino acid change:

G189E

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Acar et al., 2008)

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 autosomal recessive limb-girdle muscular dystrophy

CEA

(Servian‐Morilla et al., 2016)

CEA with Hsap\POGLUT1^{D233E.UAS.Tag:FLAG}

(Servián-Morilla et al., 2020)

CEA with Hsap\POGLUT1^{R183W.UAS.Tag:FLAG}

(Servián-Morilla et al., 2020)

CEA with Hsap\POGLUT1^{I129T.UAS.Tag:FLAG}

(Servián-Morilla et al., 2020)

CEA with Hsap\POGLUT1^{Y57C.UAS.Tag:FLAG}

(Servián-Morilla et al., 2020)

CEA with Hsap\POGLUT1^{C102F.UAS.Tag:FLAG}

(Servián-Morilla et al., 2020)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of autosomal recessive limb-girdle muscular dystrophy

is ameliorated by Hsap\POGLUT1^{D233E.UAS.Tag:FLAG}

(Servian‐Morilla et al., 2016)

is ameliorated by Hsap\POGLUT1^UAS.Tag:FLAG

(Servian‐Morilla et al., 2016)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal size | pupal stage

(Servián-Morilla et al., 2020)

decreased cell number | pupal stage | heat sensitive

(Servian‐Morilla et al., 2016)

decreased cell size | pupal stage | heat sensitive

(Servian‐Morilla et al., 2016)

Phenotype Manifest In

indirect flight muscle cell | pupal stage

(Servián-Morilla et al., 2020)

indirect flight muscle cell | pupal stage | heat sensitive

(Servian‐Morilla et al., 2016)

myoblast | pupal stage | heat sensitive

(Servian‐Morilla et al., 2016)

Detailed Description

Statement

Reference

rumi⁷⁹ homozygous pupae exhibit severe and significant shortening of dorsal longitudinal indirect flight muscle fibers (myotube length) when compared to controls.

(Servián-Morilla et al., 2020)

rumi⁷⁹ homozygotes raised at 25[o]C or 30[o]C exhibit dramatic impairment of indirect flight muscle development, withan incomplete set of shorter, of Twist-positive myoblasts; when raised at 18[o]C there is normal indirect flight muscle development, without apparent myoblast defects.

(Servian‐Morilla et al., 2016)

Homozygous adults raised at 18[o]C show a rhabdomere attachment phenotype, with 2 or more rhabdomeres in each ommatidium being attached to each other.

(Haltom et al., 2014)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

rumi⁷⁹ has abnormal size | pupal stage phenotype, suppressible by Hsap\POGLUT1^UAS.Tag:FLAG/Scer\GAL4^Mef2.PU

(Servián-Morilla et al., 2020)

rumi⁷⁹ has abnormal size | pupal stage phenotype, suppressible | partially by Hsap\POGLUT1^{D233E.UAS.Tag:FLAG}/Scer\GAL4^Mef2.PU