FlyBase Allele Report: Hsap\MAPT[P301L.QUAS.0N4R]

General Information

Symbol

Hsap\MAPT^{P301L.QUAS.0N4R}

Species

H. sapiens

Name

FlyBase ID

FBal0399656

Feature type

allele

Associated gene

Hsap\MAPT

Associated Insertion(s)

Carried in Construct

PBac{QUAS-hMAPT.P301L.0N4R}

Key Links

Transgenic product class

missense_variant

(Praschberger et al., 2023)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Praschberger et al., 2023)

Mutagen

in vitro construct

(Praschberger et al., 2023)

Progenitor genotype

Carried in construct

PBac{QUAS-hMAPT.P301L.0N4R}

Cytology

Description

QUAS sequences regulate expression of the 0N4R isoform of Hsap\MAPT, mutated to carry a P301L amino acid replacement.

(Praschberger et al., 2023)

Allele components

Component

Use(s)

Regulatory region(s)

QUAS

binary expression system - 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

(Praschberger et al., 2023)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of tauopathy

is ameliorated by Trpm^KO

(Praschberger et al., 2023)

is ameliorated by Hsp83^e6A

(Praschberger et al., 2023)

is exacerbated by SelR^MI14226

(Praschberger et al., 2023)

is exacerbated by DIP-η^{MI07948-TG4.1}

(Praschberger et al., 2023)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

adult brain, with Ncra\QF^QF2.nSyb

(Praschberger et al., 2023)

centrifugal neuron C2, with Ncra\QF^QF2.nSyb

(Praschberger et al., 2023)

retina | adult stage, with Ncra\QF^QF2.nSyb

(Praschberger et al., 2023)

retina | adult stage, with Ncra\QF^QF2w.nSyb

(Praschberger et al., 2023)

transmedullary neuron Tm3, with Ncra\QF^QF2.nSyb

(Praschberger et al., 2023)

vacuole | adult stage | increased number, with Ncra\QF^QF2.nSyb

(Praschberger et al., 2023)

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, enhanceable by SelR^MI14226

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, enhanceable by DIP-ε^{MI11827-TG4.1}

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, enhanceable by bru3^MI02379

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, enhanceable by CG13743^{CR01083-TG4.0}

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, enhanceable by RapGAP1^{MI07759-TG4.0}

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, enhanceable by CG34384^MI12624

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, enhanceable by Epac^{CR00799-TG4.1}

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, enhanceable by Rtnl1^1.W

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, enhanceable by Trim9^{MI12525-FF.GT-mCh}

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, enhanceable by CG3860^{CR00915-TG4.1}

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, enhanceable by Syngr¹

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, enhanceable by Csp^R1

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, enhanceable by DIP-ι^{CR00997-TG4.1}

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, enhanceable by GluRIB^{MI00476-TG4.1}

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, enhanceable by Camⁿ³³⁹

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, enhanceable by CenG1A^{MI11722-TG4.1}

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, enhanceable by fid^MI13909

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, enhanceable by KCNQ¹⁸⁶

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, enhanceable by pros¹⁷

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, enhanceable by Pde1c^MI15514

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, enhanceable by jdp^MI03572

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, enhanceable by Ank2^MI13371

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, enhanceable by DIP-ζ^{MI03838-TG4.0}

(Praschberger et al., 2023)

Suppressed by

Statement

Reference

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, suppressible | partially by Hsp83^e6A

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, suppressible | partially by Calx^B

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, suppressible | partially by Cdep^{CR01137-TG4.0}

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, suppressible | partially by Mctp^MI02901

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has abnormal neurophysiology | adult stage phenotype, suppressible | partially by Trpm^KO

(Praschberger et al., 2023)

Other

Statement

Reference

Eaat2^{CR00503-TG4.2}, Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has increased mortality phenotype

(Praschberger et al., 2023)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, enhanceable by SelR^MI14226

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, enhanceable by DIP-ε^{MI11827-TG4.1}

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, enhanceable by bru3^MI02379

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, enhanceable by CG13743^{CR01083-TG4.0}

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, enhanceable by RapGAP1^{MI07759-TG4.0}

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, enhanceable by CG34384^MI12624

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, enhanceable by Csp^R1

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, enhanceable by Epac^{CR00799-TG4.1}

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, enhanceable by Rtnl1^1.W

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, enhanceable by Trim9^{MI12525-FF.GT-mCh}

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, enhanceable by CG3860^{CR00915-TG4.1}

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, enhanceable by Syngr¹

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, enhanceable by DIP-ι^{CR00997-TG4.1}

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, enhanceable by GluRIB^{MI00476-TG4.1}

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, enhanceable by Camⁿ³³⁹

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, enhanceable by CenG1A^{MI11722-TG4.1}

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, enhanceable by fid^MI13909

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, enhanceable by jdp^MI03572

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, enhanceable by KCNQ¹⁸⁶

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, enhanceable by pros¹⁷

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, enhanceable by Pde1c^MI15514

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, enhanceable by Ank2^MI13371

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, enhanceable by DIP-ζ^{MI03838-TG4.0}

(Praschberger et al., 2023)

Suppressed by

Statement

Reference

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, suppressible | partially by Hsp83^e6A

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, suppressible | partially by Cdep^{CR01137-TG4.0}

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, suppressible | partially by Calx^B

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, suppressible | partially by Mctp^MI02901

(Praschberger et al., 2023)

Hsap\MAPT^{P301L.QUAS.0N4R}, Ncra\QF^QF2w.nSyb has retina | adult stage phenotype, suppressible | partially by Trpm^KO

(Praschberger et al., 2023)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

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^{P301L.QUAS.0N4R}

Name Synonyms

Secondary FlyBase IDs

References (1)

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