FlyBase Allele Report: Dmel\ninaE[G69D]

General Information

Symbol

Dmel\ninaE^G69D

Species

D. melanogaster

Name

FlyBase ID

FBal0046173

Feature type

allele

Associated gene

Dmel\ninaE

Associated Insertion(s)

Carried in Construct

Also Known As

rh1^G69D

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Colley et al., 1995)

Progenitor genotype

Cytology

Description

Amino acid replacement: G69D. Nucleotide substitution: G377A.

(Colley et al., 1995)

Amino acid replacement: G69D.

(Kurada and O'Tousa, 1995)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:19,887,762..19,887,762 [-]

Nucleotide change:

G19887762A

Amino acid change:

G69D | ninaE-PA

Reported amino acid change:

G69D|FBrf0080181

Comment:

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

(Kurada and O'Tousa, 1995)

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 retinitis pigmentosa

CEA

(Park et al., 2020, Huang et al., 2018, Kang and Ryoo, 2009, Ryoo et al., 2007, Colley et al., 1995)

model of retinitis pigmentosa 4

CEC

(Park et al., 2023, Zhao et al., 2023)

model of retinal disease

CEA

(Xu et al., 2020)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of retinitis pigmentosa

is NOT ameliorated by hiro^UAS.Tag:V5

(Huang et al., 2018)

is exacerbated by hiro^F1

(Huang et al., 2018)

is exacerbated by Xbp1^k13803

(Ryoo et al., 2007)

is ameliorated by Herp^GD981

(Kang and Ryoo, 2009)

is ameliorated by Edem2^UAS.Tag:MYC

(Kang and Ryoo, 2009)

is ameliorated by sip3^UAS.Tag:MYC

(Kang and Ryoo, 2009)

is ameliorated by Usp14^UAS.Tag:HA

(Park et al., 2020)

model of retinal disease

is ameliorated by sordd1^UAS.cXa

(Xu et al., 2020)

is ameliorated by Hsap\RNF185^GMR.cXa

(Xu et al., 2020)

is ameliorated by Hsap\RNF5^UAS.cXa

(Xu et al., 2020)

is ameliorated by Hsap\SYVN1^UAS.cXa

(Xu et al., 2020)

is ameliorated by Smg5^UAS.ORF

(Xu et al., 2020)

is ameliorated by sordd2^EY20019

(Xu et al., 2020)

is ameliorated by sordd2^UAS.cXa

(Xu et al., 2020)

is ameliorated by sip3^UAS.Tag:MYC

(Xu et al., 2020)

is ameliorated by sordd1^G757

(Xu et al., 2020)

model of retinitis pigmentosa 4

is ameliorated by PEK^trp.PZ

(Zhao et al., 2023)

is ameliorated by ref(2)P^m.CRISPR

(Zhao et al., 2023)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy | adult stage

(Xu et al., 2020)

abnormal neurophysiology | adult stage | progressive

(Xu et al., 2020)

abnormal visual behavior | dominant

(Colley et al., 1995)

decreased cell number | adult stage

(Xu et al., 2020)

increased cell death

(Mendes et al., 2009)

Phenotype Manifest In

Detailed Description

Statement

Reference

ninaE^G69D heterozygotes exhibit severe loss of rhabdomeres and photoreceptor cells, and small ERG response amplitudes and a complete loss of transients, ~25 days after eclosion.

(Xu et al., 2020)

ninaE^G69D heterozygotes show prominent retinal degeneration, as compared to wild-type controls.

(Huang et al., 2018)

Mutant flies raised under a 12 hour day/light cycle do not show retinal degeneration.

(Dourlen et al., 2012)

Heterozygous flies show a progressive retinal degeneration.

(Kang et al., 2012)

Heterozygotes show progressive retinal degeneration (assayed by loss of the pseudopupil); the pseudopupils disappear beginning at 12 days after eclosion in a progressive manner, with only 10% of flies showing intact pseudopupils at 28 days after eclosion. In 21 day old flies, most ommatidia are in disarray, with large vacuoles and with an overall reduction of rhabdomere numbers.

(Kang and Ryoo, 2009)

Sixty-day old ninaE^G69D homozygous mutant retina desiplay defects in the ommatidia trapezoidal arrangement and occasional photoreceptor cell loss.

(Mendes et al., 2009)

The pseudopupil of ninaE^G69D/+ flies starts to disappear, in a progressive manner, after 16 days. After 24 days, no ninaE^G69D/+ flies with a pseudopupil are observed.

(Ryoo et al., 2007)

Severe retinal degradation.

(Colley et al., 1995)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

ninaE^G69D has abnormal neuroanatomy | adult stage phenotype, suppressible | partially by sip3^GMR.cXa

(Xu et al., 2020)

ninaE^G69D has decreased cell number | adult stage phenotype, suppressible | partially by sip3^GMR.cXa

(Xu et al., 2020)

ninaE^G69D has abnormal neuroanatomy | adult stage phenotype, suppressible by sordd1^GMR.cXa

(Xu et al., 2020)

ninaE^G69D has decreased cell number | adult stage phenotype, suppressible by sordd1^GMR.cXa

(Xu et al., 2020)

ninaE^G69D has abnormal neurophysiology | adult stage phenotype, suppressible by sordd1^GMR.cXa

(Xu et al., 2020)

ninaE^G69D has abnormal neurophysiology | adult stage phenotype, suppressible | partially by sip3^GMR.cXa

(Xu et al., 2020)

Other

Statement

Reference

crc¹/crc^{MI02300-GFSTF.1}, ninaE^G69D/ninaE[+] has abnormal neuroanatomy | adult stage | progressive phenotype

(Vasudevan et al., 2022)

crc^{MI02300-GFSTF.1}, ninaE^G69D/ninaE[+] has abnormal neuroanatomy | adult stage phenotype

(Vasudevan et al., 2022)

Phenotype Manifest In

Enhanced by

Statement

Reference

ninaE^G69D has eye phenotype, enhanceable by Scer\GAL4^unspecified/Erasp^UAS.Tag:FLAG

(Park et al., 2023)

ninaE^G69D has retina | adult stage phenotype, enhanceable by PEK^e01744

(Vasudevan et al., 2020)

ninaE^G69D has retina | adult stage | progressive phenotype, enhanceable by hiro^F1/hiro^F1

(Huang et al., 2018)

ninaE^G69D has ommatidium | adult stage | progressive phenotype, enhanceable by hiro^F1/hiro^F1

(Huang et al., 2018)

ninaE^G69D has retina phenotype, enhanceable by Xbp1[+]/Xbp1^k13803

(Ryoo et al., 2007)

NOT Enhanced by

Statement

Reference

ninaE^G69D has retina phenotype, non-enhanceable by Xbp1[+]/Xbp1^excP

(Ryoo et al., 2007)

Suppressed by

Statement

Reference

ninaE^G69D has eye phenotype, suppressible | partially by wg^KK108857/Scer\GAL4^unspecified

(Park et al., 2023)

ninaE^G69D has ommatidium | adult stage phenotype, suppressible | partially by wg^KK108857/Scer\GAL4^unspecified

(Park et al., 2023)

ninaE^G69D has eye phenotype, suppressible | partially by Erasp^KK105798/Scer\GAL4^unspecified

(Park et al., 2023)

ninaE^G69D has rhabdomere of eye photoreceptor cell | decreased number phenotype, suppressible | partially by sip3^GMR.cXa

(Xu et al., 2020)

ninaE^G69D has eye photoreceptor cell | decreased number phenotype, suppressible | partially by sip3^GMR.cXa

(Xu et al., 2020)

ninaE^G69D has rhabdomere of eye photoreceptor cell | decreased number phenotype, suppressible by sordd1^GMR.cXa

(Xu et al., 2020)

ninaE^G69D has eye photoreceptor cell | decreased number phenotype, suppressible by sordd1^GMR.cXa

(Xu et al., 2020)

ninaE^G69D has retina phenotype, suppressible | partially by sip3^GMR.cXa

(Xu et al., 2020)

ninaE^G69D has retina phenotype, suppressible by sordd1^GMR.cXa

(Xu et al., 2020)

ninaE^G69D has retina | conditional phenotype, suppressible | partially by Cdk5^GD13840/Scer\GAL4^GMR.PF

(Kang et al., 2012)

ninaE^G69D has retina | conditional phenotype, suppressible | partially by Mekk1^Ur36/Mekk1^Ur36

(Kang et al., 2012)

ninaE^G69D has retina phenotype, suppressible | partially by Scer\GAL4^ninaE.PT/sip3^UAS.Tag:MYC

(Kang and Ryoo, 2009)

ninaE^G69D has retina phenotype, suppressible | partially by Edem2^UAS.Tag:MYC/Scer\GAL4^ninaE.PT

(Kang and Ryoo, 2009)

ninaE^G69D has retina phenotype, suppressible | partially by Edem1^UAS.Tag:MYC/Scer\GAL4^ninaE.PT

(Kang and Ryoo, 2009)

ninaE^G69D has ommatidium phenotype, suppressible | partially by Scer\GAL4^ninaE.PT/sip3^UAS.Tag:MYC

(Kang and Ryoo, 2009)

ninaE^G69D has ommatidium phenotype, suppressible | partially by Edem2^UAS.Tag:MYC/Scer\GAL4^ninaE.PT

(Kang and Ryoo, 2009)

ninaE^G69D has ommatidium phenotype, suppressible | partially by Edem1^UAS.Tag:MYC/Scer\GAL4^ninaE.PT

(Kang and Ryoo, 2009)

NOT suppressed by

Statement

Reference

ninaE^G69D has retina | adult stage | progressive phenotype, non-suppressible by hiro^UAS.Tag:V5/Scer\GAL4^ninaE.PT

(Huang et al., 2018)

ninaE^G69D has ommatidium | adult stage | progressive phenotype, non-suppressible by hiro^UAS.Tag:V5/Scer\GAL4^ninaE.PT

(Huang et al., 2018)

ninaE^G69D has retina phenotype, non-suppressible by Xbp1[+]/Xbp1^excP

(Ryoo et al., 2007)

Suppressor of

Statement

Reference

ninaE^G69D/ninaE[+] is a suppressor of eye photoreceptor cell | somatic clone | cell autonomous | adult stage | conditional phenotype of Fatp1^k10307

(Dourlen et al., 2012)

ninaE^G69D is a suppressor of phenotype of norpA^P24

(Kurada and O'Tousa, 1995)

Other

Statement

Reference

crc^{MI02300-GFSTF.1}, ninaE^G69D/ninaE[+] has ommatidium | adult stage phenotype

(Vasudevan et al., 2022)

crc^{MI02300-GFSTF.1}, ninaE^G69D/ninaE[+] has eye photoreceptor cell | adult stage phenotype

(Vasudevan et al., 2022)

crc¹/crc^{MI02300-GFSTF.1}, ninaE^G69D/ninaE[+] has retina phenotype

(Vasudevan et al., 2022)

crc¹/crc^{MI02300-GFSTF.1}, ninaE^G69D/ninaE[+] has ommatidium | adult stage phenotype

(Vasudevan et al., 2022)

crc¹/crc^{MI02300-GFSTF.1}, ninaE^G69D/ninaE[+] has eye photoreceptor cell | adult stage phenotype

(Vasudevan et al., 2022)

crc^{MI02300-GFSTF.1}, ninaE^G69D/ninaE[+] has retina phenotype

(Vasudevan et al., 2022)

Df(3R)eIF2D, P{ΔeIF2D}, ninaE^G69D has retina | adult stage phenotype

(Vasudevan et al., 2020)

Df(3R)eIF2D, eIF2D^+tVa, ninaE^G69D has retina | adult stage phenotype

(Vasudevan et al., 2020)

Df(3R)eIF2D, eIF2D^D109A, ninaE^G69D has retina | adult stage phenotype

(Vasudevan et al., 2020)

Additional Comments

Genetic Interactions

Statement

Reference

The retinal degeneration observed in ninaE^G69D heterozygotes is exacerbated by hiro^F1 homozygosity, but is not rescued by the expression of hiro^{Scer\UAS.T:SV5\V5} under the control of Scer\GAL4^ninaE.PT.

(Huang et al., 2018)

The presence of ninaE^G69D/+ rescues the photoreceptor degeneration phenotype seen in Fatp^k10307 clones in the retina.

(Dourlen et al., 2012)

The time course of retinal degeneration seen in ninaE^G69D/+ flies is delayed in a Mekk1^Ur36/Mekk1^Ur36 background.

The time course of retinal degeneration seen in ninaE^G69D/+ flies is delayed in by expression of Cdk5^GD13840 under the control of Scer\GAL4^GMR.PF.

(Kang et al., 2012)

Expression of sip3^{Scer\UAS.T:Hsap\MYC} or Edem2^{Scer\UAS.T:Hsap\MYC} under the control of Scer\GAL4^ninaE.PT dramatically decreases the rate of pseudopupil loss seen in ninaE^G69D/+ flies. The ommatidial defects seen in 21 day old ninaE^G69D/+ flies are also suppressed in the double mutants.

Expression of Edem1^{Scer\UAS.T:Hsap\MYC} under the control of Scer\GAL4^ninaE.PT slightly delays the rate of pseudopupil loss seen in ninaE^G69D/+ flies. The ommatidial defects seen in 21 day old ninaE^G69D/+ flies are mildly suppressed in the double mutants.

(Kang and Ryoo, 2009)

Reduced ninaE dosage in ninaE^G69D heterozygotes protects photoreceptor cells from Scer\GAL4^ninaE.PT-p53^Scer\UAS.cJa-induced apoptosis.

(Mendes et al., 2009)

A Xbp1^k13803/+ background significantly accelerates the retinal degeneration of ninaE^G69D/+ flies: the pseudopupil of approximately 30% of Xbp1^k13803/+ ninaE^G69D/+ flies starts to disappear by day 8 (i.e. 8 days earlier than in ninaE^G69D/+ flies) and no pseudopupils are observed after day 16.

A Xbp1^excP/+ background has no effect on the degeneration of ninaE^G69D/+ eyes.

(Ryoo et al., 2007)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

64123

w^*; ninaE^G69D/TM6B, Tb¹

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (5)

Reported As

Symbol Synonym

G69D

(Bentrop, 1998)

Rh1^G69D

(Xu et al., 2020)

nina^EG69D

(Vasudevan et al., 2020)

ninaE^G69D

(Park et al., 2023, Zhao et al., 2023, Vasudevan et al., 2022, Huang and Ryoo, 2021, Park et al., 2020, Huang et al., 2018, Kang et al., 2012, Kang and Ryoo, 2009, Mendes et al., 2009, Kang and Ryoo, 2007, Ryoo et al., 2007)

rh1^G69D

(Dourlen et al., 2012, Mendes et al., 2009)

Name Synonyms

Secondary FlyBase IDs

References (18)

Report Sections

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