FlyBase Allele Report: Hsap\MAPT[GMR.S11A]

General Information

Symbol

Hsap\MAPT^GMR.S11A

Species

H. sapiens

Name

FlyBase ID

FBal0281837

Feature type

allele

Associated gene

Hsap\MAPT

Associated Insertion(s)

Carried in Construct

P{GMR-Tau.S11A}

Key Links

Transgenic product class

missense_variant

(Chatterjee et al., 2009)

polypeptide_post_translational_processing_variant

(Chatterjee et al., 2009)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Chatterjee et al., 2009)

polypeptide_post_translational_processing_variant

(Chatterjee et al., 2009)

Mutagen

in vitro construct

(Chatterjee et al., 2009)

Progenitor genotype

Carried in construct

P{GMR-Tau.S11A}

Cytology

Description

GMR regulatory sequences drive expression of an oligonucleotide encoding wild type Hsap\MAPT with mutations at 11 of 14 major serine/threonine sgg phosphorylation sites: S46A, T50A, S199A, T202A, T205A, T212A, S214A, T231A, S235A, S396A and S404A. The two amino terminal inserts generated by alternative splicing of Hsap\MAPT exons 2 and 3 are included.

(Chatterjee et al., 2009)

Allele components

Component

Use(s)

Regulatory region(s)

GMR

engineered transcription regulatory region

Encoded product / tool

Hsap\MAPT

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 tauopathy

CEA

(Chatterjee et al., 2009)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of tauopathy

is exacerbated by par-1^UAS.cSa

(Chatterjee et al., 2009)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal size

(Chatterjee et al., 2009)

Phenotype Manifest In

eye

(Chatterjee et al., 2009)

interommatidial bristle

(Chatterjee et al., 2009)

ommatidium

(Chatterjee et al., 2009)

Detailed Description

Statement

Reference

Hsap\MAPT^GMR.S11A animals have reduced, rough eyes with fused ommatidia and missing bristles. Internal retinal morphology is moderately abnormal.

(Chatterjee et al., 2009)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\MAPT^GMR.S11A has abnormal size phenotype, enhanceable by Scer\GAL4^GMR.PS/par-1^UAS.cSa

(Chatterjee et al., 2009)

Hsap\MAPT^GMR.S11A has abnormal size phenotype, enhanceable by sgg^UAS.cSa/Scer\GAL4^GMR.PS

(Chatterjee et al., 2009)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\MAPT^GMR.S11A has ommatidium phenotype, enhanceable by Scer\GAL4^GMR.PS/par-1^UAS.cSa

(Chatterjee et al., 2009)

Hsap\MAPT^GMR.S11A has eye phenotype, enhanceable by Scer\GAL4^GMR.PS/par-1^UAS.cSa

(Chatterjee et al., 2009)

Hsap\MAPT^GMR.S11A has interommatidial bristle phenotype, enhanceable by Scer\GAL4^GMR.PS/par-1^UAS.cSa

(Chatterjee et al., 2009)

Hsap\MAPT^GMR.S11A has ommatidium phenotype, enhanceable by sgg^UAS.cSa/Scer\GAL4^GMR.PS

(Chatterjee et al., 2009)

Hsap\MAPT^GMR.S11A has eye phenotype, enhanceable by sgg^UAS.cSa/Scer\GAL4^GMR.PS

(Chatterjee et al., 2009)

Hsap\MAPT^GMR.S11A has interommatidial bristle phenotype, enhanceable by sgg^UAS.cSa/Scer\GAL4^GMR.PS

(Chatterjee et al., 2009)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The Hsap\MAPT^GMR.S11A small and rough eye phenotype is enhanced by Scer\GAL4^GMR.PS-mediated co-expression of par-1^Scer\UAS.cSa or sgg^Scer\UAS.cSa. Retinas of the double transgenics show dramatic disruption, and in the case of sgg^Scer\UAS.cSa co-expression, rhabdomeres show disorganization with some photoreceptor loss.

(Chatterjee et al., 2009)

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 (1)

Reported As

Symbol Synonym

Hsap\MAPT^GMR.S11A

Name Synonyms

Secondary FlyBase IDs

References (1)

Report Sections

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