Open Close
General Information
Symbol
Dmel\Nf1P1
Species
D. melanogaster
Name
FlyBase ID
FBal0061708
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Associated Sequence Data
DNA sequence
Protein sequence
 
 
Cytology
Nature of the lesion
Statement
Reference

Deletion of the Nf1 locus.

Deletion that removes of Nf1 except for the first exon.

Caused by aberration
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
Modifiers Based on Experimental Evidence ( 1 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Nf1P1/Nf1P2 transheterozygotes present a fully penetrant lack of circadian rhythmicity and a severe decrease in sleep time; Nf1P1 heterozygotes show a minor decrease in rhythmicity.

Nf1P1 mutant adults on average display significant increase activity at night and loss of sleep both during the day and at night. The increase in activity is largely due to relatively sparse but large bursts of activity that are more frequent in Nf1P1 mutants than wild-type. This large bursts of activity represent grooming behavior rather than locomotion.

Nf1P1 mutant adults display significant increase in grooming frequency as well as average duration of grooming behavior bouts compared to wild-type both immediately after introduction into the experimental arena and after 15 min period of acclimatization. The overall increase in grooming is due to elevated head/eye grooming initially but after acclimatization abdomen and hind legs grooming is also increased compared to controls.

Nf1P1/Nf1P2 male flies sleep significantly less than wild type flies, whereas females do not show consistent differences; sleep is also fragmented, as males have significantly reduced bout duration and increased bout number and females have significantly increased bout number. Both male and female Nf1P1/Nf1P2 flies exhibit nocturnal hyperactivity (resulting in an increase in daytime sleep and a decrease in nighttime sleep), and are arrhythmic in dark conditions.

Nf1P1 males and females are significantly smaller than controls.

Flies expressing Nf1Scer\UAS.cBa under the control of Scer\GAL4c305a in a Nf1P1 background exhibits severely reduced fecundity.

Nf1P1 mutants exhibit a 60-73% reduction in life span, relative to controls. Nf1P1/Nf1P2 transheterozygotes exhibit a life span similar to Nf1P2 flies, i.e., they exhibit a 24-40% reduction in life span.

Nf1P2 mutants exhibit a 24-40% reduction in life span, relative to controls.Nf1P1/Nf1P2 transheterozygotes exhibit a life span similar to Nf1P2 flies.

Nf1P2 mutants exhibit a drop in physical fitness compared to controls. Nf1P2 and Nf1P2/Nf1P1 flies take over 100 minutes to recover from a 20 minute 37[o]C heat stress, as shown by a locomotive index generated with a climbing assay.

The ADP-stimulated respiration rate and the derived ATP synthesis rate are reduced by approximately 50% in Nf1P1 flies, whereas the non-ADP-stimulated respiration is unaffected.

Nf1P1/Nf1P2 mitochondria generate more superoxide than control mitochondria.

Exposure to Mn(III)tetrakis(4-benzoic acid) porphin and tetrakis(1,3-diethyl imidazolium-2-yl) meso-substituted manganoporphyrin (MnTDEIP) increases the survivorship of Nf1P1/Nf1P2 flies by approximately 50%, indicating that increased superoxide anion production is the cause of the reduced life span found in Nf1P1/Nf1P2 mutants. These drugs also enhance the recovery rate of locomotive performance of Nf1P1/Nf1P2 mutants after heat stress.

Significant 25-hour locomotor activity rhythms are detected in only 37% of Nf1P1 flies in LD (12 hour light:12 hour dark) conditions. Flies that do show significant rhythms do not show a consistent activity peak or the anticipatory behaviour that normally accompanies the light:dark transitions.

Mutant flies show no rhythmicity in locomotor activity when kept under constant darkness conditions. Average locomotor activity is normal under these conditions. 22.73% of Nf1P1/Df(3R)Espl3 flies show weak rhythmic locomotor activity under constant darkness conditions.

Flies show a significant decrease in olfactory learning performance compared to controls. Olfactory avoidance and electric-shock reactivity are similar in mutant and control flies. Nf1P1 flies show a short-term memory defect (3 and 8 hour retention).

Modulation of voltage gated K+ currents induced by the neuropeptide pituitary adenylyl cyclase-activating polypeptide (PACAP38) is eliminated. Application of cAMP analogs or forskolin is sufficient to restore the PACAP38-like enhancement of K+ currents.

Homozygotes are 20-25% smaller than wild type during postembryonic stages. Clones in the wings demonstrates the reduced size of wing epidermal cells reflects a cell-autonomous defect, clones in the eye show a reduced number of ommatidia of normal size and structure. Heterozygous loss of Sos or Ras85D has no effect on size of Nf1 mutant pupae. In homozygotes 25% ommatidia have one or more extra photoreceptor cells. Homozygotes exhibit reduced escape response due to defects at the larval neuromuscular junction.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
NOT Enhanced by
Statement
Reference

Nf1P2/Nf1P1 has abnormal sleep phenotype, non-enhanceable by SIFa1/SIFa[+]

Nf1P2/Nf1P1 has abnormal sleep phenotype, non-enhanceable by SIFa[+]/SIFa2

Nf1P2/Nf1P1 has abnormal sleep phenotype, non-enhanceable by SIFa3/SIFa[+]

Nf1P2/Nf1P1 has abnormal sleep phenotype, non-enhanceable by SIFa3/SIFa2

Suppressed by
NOT suppressed by
Statement
Reference

Nf1P2/Nf1P1 has abnormal circadian rhythm | adult stage phenotype, non-suppressible by Pdfr[+]/Pdfr3369

Nf1P2/Nf1P1 has abnormal circadian rhythm | adult stage phenotype, non-suppressible by Pdfr[+]/Pdfr5304

Nf1P2/Nf1P1 has abnormal sleep phenotype, non-suppressible by SIFa1/SIFa[+]

Nf1P2/Nf1P1 has abnormal sleep phenotype, non-suppressible by SIFa[+]/SIFa2

Nf1P2/Nf1P1 has abnormal sleep phenotype, non-suppressible by SIFa3/SIFa[+]

Nf1P2/Nf1P1 has abnormal sleep phenotype, non-suppressible by SIFa3/SIFa2

Nf1P1 has abnormal locomotor rhythm phenotype, non-suppressible by dnc1

Nf1P1 has abnormal locomotor rhythm phenotype, non-suppressible by dncML

Enhancer of
Statement
Reference

Nf1P2/Nf1P1 is an enhancer of abnormal sleep phenotype of SIFa3/SIFa2

Suppressor of
Statement
Reference
Other
Statement
Reference
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference

Nf1P1 heterozygosity suppresses the shorter circadian period of Pdfr5304 and Pdfr3369 hemizygotes and partially suppresses the circadian arrhythmicity of Pdfr3369 hemizygotes, but not of Pdfr5304 hemizygotes.

Nf1P1/Nf1P2 mutations suppress (to different degrees) the long sleep phenotype seen in Alkts/Alk1 males and females at different temperatures (18, 25 or 29[o]C). In male flies, Alkts/Alk1;Nf1P1/Nf1P2 double mutants even sleep significantly less than wild type flies.

Alkts/Alk1 does not suppress arrhythmicity (in dark conditions) in Nf1P1/Nf1P2 flies.

Weak heat induced expression at 28oC causes significant rescue of the Nf1 mutant pupal phenotype. Higher expression levels cause lethality.

Xenogenetic Interactions
Statement
Reference

(with Nf1[P2]) small body | pupal stage, suppressible { Hsap\NF1[Scer\UAS.cHa], Scer\GAL4[elav-C155] }

(with Nf1[P2]) small body | pupal stage, suppressible { Hsap\NF1[Scer\UAS.cHa], Scer\GAL4[e22c] }

The short-term memory defect of Nf1P1 flies is completely rescued by heat shock induced expression of Mmus\Pkacahs.PJ. Mmus\Pkacahs.PJ completely rescues the learning defect of Nf1P1 when the flies are raised at room temperature.

Complementation and Rescue Data
Partially rescued by
Comments

Expression of Nf1Scer\UAS.cdNa driven by Scer\GAL4nSyb.PS rescues the decreases in total sleep seen in Nf1P1/Nf1P2 male and female flies, even significantly increasing total sleep beyond wild type amounts.

Expression of Nf1Scer\UAS.cBa throughout the central brain under the control of Scer\GAL4Mz1081 is sufficient to rescue the 3 hour memory phenotype found in Nf1P1 mutants.

Expression of Nf1Scer\UAS.cBa throughout the central brain under the control of Scer\GAL4NP0009 is sufficient to rescue the 3 hour memory phenotype found in Nf1P1 mutants.

Expression of Nf1Scer\UAS.cBa in the α/β mushroom body neurons under the control of Scer\GAL4c739 is sufficient to rescue the 3 hour memory phenotype found in Nf1P1 mutants. Expression of Nf1Scer\UAS.cBa in α/β neurons under the control of Scer\GAL4c739 fully rescues the Nf1P1 3 minute memory phenotype after training. Expression of Nf1Scer\UAS.cBa under the control of Scer\GAL4c739 in α/β-neurons fully rescues long-term memory in Nf1P1 mutants.

Expression of Nf1Scer\UAS.cBa in the central core of α/β mushroom body neurons under the control of Scer\GAL417d is not sufficient to rescue the 3 hour memory phenotype found in Nf1P1 mutants.

Phenotype is rescued by heat induced expression of Nf1hs.PT.

The growth defect can be rescued by heat induced expression of Nf1hs.PT.

Images (0)
Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (3)
References (15)