FlyBase Allele Report: Hsap\MBNL1[UAS.Tag:Xpress]

General Information

Symbol

Hsap\MBNL1^{UAS.Tag:Xpress}

Species

H. sapiens

Name

FlyBase ID

FBal0279555

Feature type

allele

Associated gene

Hsap\MBNL1

Associated Insertion(s)

Carried in Construct

P{UAS-MBNL1.Xpress}

Also Known As

UAS-MBNL1

Key Links

Transgenic product class

wild_type

(de Haro et al., 2006)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

wild_type

(de Haro et al., 2006)

Mutagen

in vitro construct

(de Haro et al., 2006)

Progenitor genotype

Carried in construct

P{UAS-MBNL1.Xpress}

Cytology

Description

UASt regulatory sequences drive expression of the 41kb isoform of Hsap\MBNL1 tagged at the N-terminal end with Tag:Xpress.

(de Haro et al., 2006)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\MBNL1

Tagged with

Tag:Xpress

epitope tag

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

ameliorates myotonic disease

modeled by Zzzz\CTG^i480.UAS

(de Haro et al., 2006)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

eye, with Scer\GAL4^GMR.PU

(de Haro et al., 2013)

Detailed Description

Statement

Reference

Scer\GAL4^GMR.PU-mediated expression results in mild ommatidial disorganization, loss of bristles and a reduction in size of the adult eye.

(de Haro et al., 2013)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

Hsap\MBNL1^{UAS.Tag:Xpress}, Scer\GAL4^GMR.PF is a suppressor | partially of visible | adult stage phenotype of Scer\GAL4^GMR.PF, Zzzz\CTG^i480.UAS

(de Haro et al., 2006)

Hsap\MBNL1^{UAS.Tag:Xpress}/Scer\GAL4^GMR.PF is a suppressor | partially of abnormal neuroanatomy | adult stage phenotype of Zzzz\CTG^i480.UAS

(de Haro et al., 2006)

Hsap\MBNL1^{UAS.Tag:Xpress}, Scer\GAL4^GMR.PF is a suppressor | partially of abnormal size | adult stage phenotype of Scer\GAL4^GMR.PF, Zzzz\CTG^i480.UAS

(de Haro et al., 2006)

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

Hsap\MBNL1^{UAS.Tag:Xpress}, Scer\GAL4^GMR.PU has eye phenotype, non-enhanceable by smg^EP3556, Scer\GAL4^GMR.PU

(de Haro et al., 2013)

Hsap\MBNL1^{UAS.Tag:Xpress}, Scer\GAL4^GMR.PU has eye phenotype, non-enhanceable by smg[+]/smg¹

(de Haro et al., 2013)

NOT suppressed by

Statement

Reference

Hsap\MBNL1^{UAS.Tag:Xpress}, Scer\GAL4^GMR.PU has eye phenotype, non-suppressible by smg^EP3556, Scer\GAL4^GMR.PU

(de Haro et al., 2013)

Hsap\MBNL1^{UAS.Tag:Xpress}, Scer\GAL4^GMR.PU has eye phenotype, non-suppressible by smg[+]/smg¹

(de Haro et al., 2013)

Suppressor of

Statement

Reference

Hsap\MBNL1^{UAS.Tag:Xpress}, Scer\GAL4^GMR.PF is a suppressor | partially of eye phenotype of Scer\GAL4^GMR.PF, Zzzz\CTG^i480.UAS

(de Haro et al., 2006)

Hsap\MBNL1^{UAS.Tag:Xpress}, Scer\GAL4^GMR.PF is a suppressor | partially of ommatidium phenotype of Scer\GAL4^GMR.PF, Zzzz\CTG^i480.UAS

(de Haro et al., 2006)

Hsap\MBNL1^{UAS.Tag:Xpress}, Scer\GAL4^Mhc.PW is a suppressor | partially of indirect flight muscle cell | conditional phenotype of Scer\GAL4^Mhc.PW, Zzzz\CTG^i480.UAS

(de Haro et al., 2006)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Expression of Hsap\MBNL1^{Scer\UAS.T:Zzzz\Xpress} dramatically suppresses the eye phenotype seen when Zzzz\CTG^{i480.Scer\UAS} is expressed under the control of Scer\GAL4^GMR.PF. The ommatidial disorganisation and reduction in eye size are both suppressed.

Expression of Hsap\MBNL1^{Scer\UAS.T:Zzzz\Xpress} suppresses the indirect flight muscle (IFM) defects seen when Zzzz\CTG^{i480.Scer\UAS} is expressed under the control of Scer\GAL4^Mhc.PW. Very little vacuolisation is seen and the muscles have a well-defined myofibril matrix. The muscle fibres are well structured with peripherally located nuclei and the density of myofibril per muscle fibre is higher. This rescue is seen in 100% of flies, with 89.5% of IFM appearing normal.

(de Haro et al., 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 (2)

Reported As

Symbol Synonym

Hsap\MBNL1^{Scer\UAS.T:Zzzz\Xpress}

Hsap\MBNL1^{UAS.Tag:Xpress}

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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