FlyBase Allele Report: Dmel\Nf1[R1320P.hs]

General Information

Symbol

Dmel\Nf1^R1320P.hs

Species

D. melanogaster

Name

FlyBase ID

FBal0197125

Feature type

allele

Associated gene

Dmel\Nf1

Associated Insertion(s)

Carried in Construct

P{hs-Nf1.R1320P}

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Walker et al., 2006)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Walker et al., 2006)

Mutagen

in vitro construct

(Walker et al., 2006)

Progenitor genotype

Carried in construct

P{hs-Nf1.R1320P}

Cytology

Description

Amino acid replacement: R1320P.

(Walker et al., 2006)

An Hsp70 promoter drives expression of Nf1 which contains an amino acid substitution relative to wild type.

(Walker et al., 2006)

Allele components

Component

Use(s)

Regulatory region(s)

Hsp70

Encoded product / tool

Nf1

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3R:25,987,935..25,987,935 [+]

Nucleotide change:

G25987935C

Amino acid change:

Reported amino acid change:

R1320P

Comment:

Analogous mutation in human NF1 implicated in neurofibromatosis, type 1; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Walker et al., 2006)

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 ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Walker et al., 2006)

NF1:p.Arg1276Pro

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

neurofibromatosis, type 1

External database links

ClinVar: NF1_353

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Partially rescues

Nf1^R1320P.hs partially rescues Nf1^E2

(Tsai et al., 2012)

Fails to rescue

Nf1^R1320P.hs fails to rescue Nf1^E2

(Walker et al., 2006)

Comments

Nf1^R1320P.hs rescues the neuromuscular junction overgrowth phenotype seen in Nf1^E2/Nf1^E2 larvae. The reduced body size of Nf1^E2/Nf1^E2 pupae is not rescued.

(Tsai et al., 2012)

The pupal size defect seen in Nf1^E2 animals is not rescued by expression of Nf1^R1320P.hs using heat shock.

(Walker et al., 2006)

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

Nf1^R1320P.hs

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

Open Close