FlyBase Allele Report: Hsap\MBNL1[UAS.cGCa]

General Information

Symbol

Hsap\MBNL1^UAS.cGCa

Species

H. sapiens

Name

Saccharomyces cerevisiae UAS construct a of Garcia-Casado

FlyBase ID

FBal0141723

Feature type

allele

Associated gene

Hsap\MBNL1

Associated Insertion(s)

Carried in Construct

P{UAS-KIAA0428}

Also Known As

UAS-MBNL1

Key Links

Transgenic product class

wild_type

(Garcia-Casado et al., 2002)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

wild_type

(Garcia-Casado et al., 2002)

Mutagen

in vitro construct

(Garcia-Casado et al., 2002)

Progenitor genotype

Carried in construct

P{UAS-KIAA0428}

Cytology

Description

UASt regulatory sequences drive expression of the Hsap\MBNL1 KIAA0428 isoform.

(Garcia-Casado et al., 2002)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\MBNL1

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 ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

exacerbates neurodegenerative disease

modeled by Hsap\ATXN3^{tr.Q78.UAS.Tag:HA}

(Li et al., 2008)

ameliorates myotonic dystrophy type 1

modeled by Zzzz\CTG^250.UAS.cCa

(Sellier et al., 2018)

ameliorates myotonic dystrophy type 2

modeled by Zzzz\CCTG^1100.UAS

(Sellier et al., 2018)

modeled by Zzzz\CCTG^UAS.700

(Yu et al., 2015)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal planar polarity, with Scer\GAL4^hs.2sev

(Garcia-Casado et al., 2002)

lethal | heat sensitive, with Scer\GAL4^hs.2sev

(Garcia-Casado et al., 2002)

visible, with Scer\GAL4^69B

(Garcia-Casado et al., 2002)

Phenotype Manifest In

eye, with Scer\GAL4^hs.2sev

(Garcia-Casado et al., 2002)

eye photoreceptor cell, with Scer\GAL4^hs.2sev

(Garcia-Casado et al., 2002)

ommatidium, with Scer\GAL4^hs.2sev

(Garcia-Casado et al., 2002)

wing, with Scer\GAL4^69B

(Garcia-Casado et al., 2002)

wing vein | ectopic, with Scer\GAL4^69B

(Garcia-Casado et al., 2002)

Detailed Description

Statement

Reference

Expression of Hsap\MBNL^{Scer\UAS.cGCa} under the control of Scer\GAL4^hs.2sev at 25^oC results in a rough eye phenotype. Planar polarity defects and loss of photoreceptor cells is seen. Expression of Hsap\MBNL^{Scer\UAS.cGCa} under the control of Scer\GAL4^69B often results in an ectopic crossvein between wing veins L2 and L3.

(Garcia-Casado et al., 2002)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

Hsap\MBNL1^UAS.cGCa, Scer\GAL4^elav-C155 is an enhancer of short lived phenotype of Scer\GAL4^elav-C155, Zzzz\CAG^{250.UAS.DsRed2}

(Li et al., 2008)

Suppressor of

Statement

Reference

Hsap\MBNL1^UAS.cGCa, Scer\GAL4^sev.PU is a suppressor of visible phenotype of Scer\GAL4^sev.PU, Zzzz\CTG^i480.UAS.cGa

(Garcia-Lopez et al., 2008)

Hsap\MBNL1^UAS.cGCa/Scer\GAL4^da.G32 is a suppressor | partially of lethal | embryonic stage phenotype of mbl^E16/mbl^E27

(Vicente et al., 2007, Monferrer and Artero, 2006)

Hsap\MBNL1^UAS.cGCa/Scer\GAL4^Mef2.PR is a suppressor | partially of lethal | embryonic stage phenotype of mbl^E16/mbl^E27

(Vicente et al., 2007)

Phenotype Manifest In

Suppressor of

Statement

Reference

Hsap\MBNL1^UAS.cGCa, Scer\GAL4^sev.PU is a suppressor of eye phenotype of Scer\GAL4^sev.PU, Zzzz\CTG^i480.UAS.cGa

(Garcia-Lopez et al., 2008)

Hsap\MBNL1^UAS.cGCa/Scer\GAL4^da.G32 is a suppressor | partially of abdomen | embryonic stage phenotype of mbl^E16/mbl^E27

(Monferrer and Artero, 2006)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Co-expression of Hsap\MBNL1^{Scer\UAS.cGCa} suppresses the eye defects caused by expression of Zzzz\CTG^{i480.Scer\UAS.cGa} under the control of Scer\GAL4^sev.PU.

(Garcia-Lopez et al., 2008)

Co-expression of Hsap\MBNL1^{Scer\UAS.cGCa} further shortens the lifespan of flies expressing Disc\RFP^{CAG250.DsRed2.Scer\UAS} pan-neuronally under the control of Scer\GAL4^elav-C155.

(Li et al., 2008)

The embryonic lethality of mbl^E16/mbl^E27 animals is partially rescued by expression of Hsap\MBNL^{Scer\UAS.cGCa} under the control of Scer\GAL4^da.G32; 78.9% of the embryos hatch.

The embryonic lethality of mbl^E16/mbl^E27 animals is only slightly rescued by expression of Hsap\MBNL^{Scer\UAS.cGCa} under the control of Scer\GAL4^Mef2.PR; 18.0% of the embryos hatch.

(Vicente et al., 2007)

78.14% of mbl^E16/mbl^E27 embryos expressing Hsap\MBNL^{Scer\UAS.cGCa} under the control of Scer\GAL4^da.G32 hatch into larvae (in contrast to 0% of mbl^E16/mbl^E27 embryos) and the hypercontracted abdomen phenotype is greatly reduced.

(Monferrer and Artero, 2006)

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 (4)

Reported As

Symbol Synonym

Hsap\MBNL1^{Scer\UAS.cGCa}

Hsap\MBNL1^UAS.cGCa

Hsap\MBNL^{Scer\UAS.cGCa}

Name Synonyms

Saccharomyces cerevisiae UAS construct a of Garcia-Casado

(Garcia-Casado et al., 2002)

Secondary FlyBase IDs

References (10)

Report Sections

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