FlyBase Allele Report: Hsap\INS[C96Y.UAS]

General Information

Symbol

Hsap\INS^C96Y.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0296136

Feature type

allele

Associated gene

Hsap\INS

Associated Insertion(s)

Carried in Construct

P{UAS-hINS.C96Y}

Also Known As

hINS^C96Y

Key Links

Transgenic product class

missense_variant

(Park et al., 2014)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Park et al., 2014)

Mutagen

in vitro construct

(Park et al., 2014)

Progenitor genotype

Carried in construct

P{UAS-hINS.C96Y}

Cytology

Description

UASt regulatory sequences drive expression of Hsap\INS containing the C96Y amino acid replacement (this mutation has been identified in human patients with permanent neonatal diabetes).

(Park et al., 2014)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\INS

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

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 neonatal diabetes mellitus

CEA

(Park et al., 2014)

model of transient neonatal diabetes mellitus

CEC

(He et al., 2014)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of neonatal diabetes mellitus

is exacerbated by botv⁵¹⁰

(He et al., 2014)

is exacerbated by sfl^GD2336

(He et al., 2014)

is exacerbated by ttv^GD1993

(He et al., 2014)

is exacerbated by botv^GD2083

(He et al., 2014)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Park et al., 2014)

INS:p.Cys96Tyr

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

diabetes mellitus, permanent neonatal 4

External database links

ClinVar: INS_13387

Comments concerning this variant

Phenotypic Data

Phenotypic Class

visible | adult stage, with Scer\GAL4^ap-md544

(Park et al., 2014)

visible | adult stage, with Scer\GAL4^dpp.blk1

(Park et al., 2014)

visible | adult stage, with Scer\GAL4^en-e16E

(Park et al., 2014)

visible | adult stage, with Scer\GAL4^GMR.PF

(Park et al., 2014)

Phenotype Manifest In

anterior crossvein, with Scer\GAL4^en-e16E

(Park et al., 2014)

anterior crossvein | posterior, with Scer\GAL4^dpp.blk1

(Park et al., 2014)

campaniform sensillum L3-2 of wing vein L3, with Scer\GAL4^dpp.blk1

(Park et al., 2014)

campaniform sensillum of anterior crossvein, with Scer\GAL4^en-e16E

(Park et al., 2014)

campaniform sensillum of anterior crossvein | ectopic, with Scer\GAL4^en-e16E

(Park et al., 2014)

eye, with Scer\GAL4^GMR.PF

(Park et al., 2014)

macrochaeta, with Scer\GAL4^ap-md544

(Park et al., 2014)

mesonotum, with Scer\GAL4^ap-md544

(Park et al., 2014)

posterior crossvein | ectopic, with Scer\GAL4^en-e16E

(Park et al., 2014)

wing, with Scer\GAL4^dpp.blk1

(Park et al., 2014)

wing, with Scer\GAL4^en-e16E

(Park et al., 2014)

wing margin | distal, with Scer\GAL4^en-e16E

(Park et al., 2014)

Detailed Description

Statement

Reference

Flies expressing Hsap\INS^Scer\UAS.cPb under the control of Scer\GAL4^GMR.PF exhibit eye defects, including a reduction in eye area, a reduced number of eye bristles, the presence of lesions with no evidence of cells, and the collapse of ommatidial structure and normal array pattern. Black lesions can be present in the eye field where no cellular structure is evident. The phenotype is stronger when two copies of Hsap\INS^Scer\UAS.cPb are present, and more severe in males than in females. Dosage of Scer\GAL4^GMR.PF has no effect on the severity of the phenotype. The phenotype is sensitive to variation in genetic background.

Expression of Hsap\INS^{C96Y.Scer\UAS} in the notum under the control of Scer\GAL4^ap-md544 causes a reduction in the posterior margin of the notum and loss of macrochaetae. The phenotype is more severe in males than in females. The phenotype is sensitive to variation in genetic background.

Expression of Hsap\INS^{C96Y.Scer\UAS} in the developing wing imaginal disc causes visible defects in a proportion of adult wings; when expressed under the control of Scer\GAL4^dpp.blk1 either the distal margins of wings are scalloped or the anterior crossvein (ACV) is absent, and under the control of Scer\GAL4^en-e16E occasional partial loss of the ACV is seen along its posterior boundary. The campaniform sensillae can be absent in portions of the wing where Hsap\INS^{C96Y.Scer\UAS} is expressed: under the control of Scer\GAL4^en-e16E the sensillum along the anterior portion of the ACV is typically absent when that portion of the crossvein is missing, and with Scer\GAL4^dpp.blk1 three additional sensillae sitting along the distal portion of the longitudinal wing vein 3 can also be absent. Portions of the wing corresponding to Hsap\INS^{C96Y.Scer\UAS} expression are also significantly reduced in area. Expressing Hsap\INS^{C96Y.Scer\UAS} under the control of Scer\GAL4^en-e16E results in replacement of the missing ACV sensillae with an ectopic one more anteriorly along the ACV or along the radial wing vein proximal to where it is intersected by the ACV. The posterior crossvein can also project ectopic longitudinal veins.

(Park et al., 2014)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\INS^C96Y.UAS, Scer\GAL4^GMR.PF has visible | adult stage phenotype, enhanceable by sfl^GD2336, Scer\GAL4^GMR.PF

(He et al., 2014)

Hsap\INS^C96Y.UAS, Scer\GAL4^GMR.PF has visible | adult stage phenotype, enhanceable by botv⁵¹⁰, Scer\GAL4^GMR.PF

(He et al., 2014)

Hsap\INS^C96Y.UAS, Scer\GAL4^GMR.PF has visible | adult stage phenotype, enhanceable by ttv^GD1993, Scer\GAL4^GMR.PF

(He et al., 2014)

Hsap\INS^C96Y.UAS, Scer\GAL4^GMR.PF has visible | adult stage phenotype, enhanceable by botv^GD2083, Scer\GAL4^GMR.PF

(He et al., 2014)

NOT Enhanced by

Statement

Reference

Hsap\INS^C96Y.UAS, Scer\GAL4^GMR.PF has visible | adult stage phenotype, non-enhanceable by βTub65B^GD10881, Scer\GAL4^GMR.PF

(He et al., 2014)

Hsap\INS^C96Y.UAS, Scer\GAL4^GMR.PF has visible | adult stage phenotype, non-enhanceable by ttv^00681b, Scer\GAL4^GMR.PF

(He et al., 2014)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\INS^C96Y.UAS, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by sfl^GD2336, Scer\GAL4^GMR.PF

(He et al., 2014)

Hsap\INS^C96Y.UAS, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by botv⁵¹⁰, Scer\GAL4^GMR.PF

(He et al., 2014)

Hsap\INS^C96Y.UAS, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by ttv^GD1993, Scer\GAL4^GMR.PF

(He et al., 2014)

Hsap\INS^C96Y.UAS, Scer\GAL4^GMR.PF has eye phenotype, enhanceable by botv^GD2083, Scer\GAL4^GMR.PF

(He et al., 2014)

NOT Enhanced by

Statement

Reference

Hsap\INS^C96Y.UAS, Scer\GAL4^GMR.PF has eye phenotype, non-enhanceable by βTub65B^GD10881, Scer\GAL4^GMR.PF

(He et al., 2014)

Hsap\INS^C96Y.UAS, Scer\GAL4^GMR.PF has eye phenotype, non-enhanceable by ttv^00681b, Scer\GAL4^GMR.PF

(He et al., 2014)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Expression of sfl^GD2336 enhances the eye phenotype seen when Hsap\INS^{C96Y.Scer\UAS} is expressed under the control of Scer\GAL4^GMR.PF.

Expression of CG32396^GD10881 does not enhance the eye phenotype seen when Hsap\INS^{C96Y.Scer\UAS} is expressed under the control of Scer\GAL4^GMR.PF.

Expression of ttv^GD1993 enhances the eye phenotype seen when Hsap\INS^{C96Y.Scer\UAS} is expressed under the control of Scer\GAL4^GMR.PF.

Expression of botv^GD2083 enhances the eye phenotype seen when Hsap\INS^{C96Y.Scer\UAS} is expressed under the control of Scer\GAL4^GMR.PF.

One copy of ttv^00681b does not enhance the eye phenotype seen when Hsap\INS^{C96Y.Scer\UAS} is expressed under the control of Scer\GAL4^GMR.PF.

One copy of botv⁵¹⁰ enhances the eye phenotype seen when Hsap\INS^{C96Y.Scer\UAS} is expressed under the control of Scer\GAL4^GMR.PF.

(He et al., 2014)

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

Hsap\INS^{C96Y.Scer\UAS}

Hsap\INS^C96Y.UAS

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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