FlyBase Allele Report: Dmel\Ppt1[S77F]

General Information

Symbol

Dmel\Ppt1^S77F

Species

D. melanogaster

Name

FlyBase ID

FBal0193175

Feature type

allele

Associated gene

Dmel\Ppt1

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Hickey et al., 2006)

Mutagen

ethyl methanesulfonate

(Hickey et al., 2006)

Progenitor genotype

Cytology

Description

Amino acid replacement: S77F.

(Hickey et al., 2006)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:8,689,750..8,689,750 [-]

Nucleotide change:

C8689750T

Amino acid change:

S77F | Ppt1-PA; S77F | Ppt1-PB

Reported amino acid change:

S77F

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Hickey 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 ( 1 )

Disease

Evidence

References

model of neuronal ceroid lipofuscinosis 1

CEC

(Aby et al., 2013, Chu-Lagraff et al., 2010, Hickey et al., 2006)

CEC with Ppt1^A179T

(Hickey et al., 2006)

model of retinal disease

CEA

(Midorikawa et al., 2010)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 1 )

In humans, Batten disease is characterised by the accumulate abnormal storage material in irregular granular deposits (GRODs) and autofluorescent inclusions in the brain, and the progressive death of neurons in the CNS. The Ppt1^S77F, and Ppt1^S77F/Ppt1^A179T flies show abnormal storage material in highly laminar spherical deposits and increased autofluorescent inclusions. No neurodegeneration detected.

(Hickey et al., 2006)

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal locomotor behavior

(Aby et al., 2013)

abnormal neuroanatomy (with Df(1)446-20)

(Hickey et al., 2006)

abnormal neuroanatomy (with Ppt1^A179T)

(Hickey et al., 2006)

abnormal neuroanatomy | embryonic stage 11 (with Ppt1^A179T)

(Chu-Lagraff et al., 2010)

abnormal neuroanatomy | embryonic stage 11 | recessive

(Chu-Lagraff et al., 2010)

abnormal neuroanatomy | embryonic stage 12 (with Ppt1^A179T)

(Chu-Lagraff et al., 2010)

abnormal neuroanatomy | embryonic stage 12 | recessive

(Chu-Lagraff et al., 2010)

abnormal neuroanatomy | embryonic stage 14 (with Df(1)446-20)

(Chu-Lagraff et al., 2010)

abnormal neuroanatomy | embryonic stage 14 (with Ppt1^A179T)

(Chu-Lagraff et al., 2010)

abnormal neuroanatomy | embryonic stage 14 | recessive

(Chu-Lagraff et al., 2010)

abnormal neuroanatomy | embryonic stage 15 (with Df(1)446-20)

(Chu-Lagraff et al., 2010)

abnormal neuroanatomy | embryonic stage 15 (with Ppt1^A179T)

(Chu-Lagraff et al., 2010)

abnormal neuroanatomy | embryonic stage 15 | recessive

(Chu-Lagraff et al., 2010)

abnormal neuroanatomy | embryonic stage 16 (with Df(1)446-20)

(Chu-Lagraff et al., 2010)

abnormal neuroanatomy | embryonic stage 16 (with Ppt1^A179T)

(Chu-Lagraff et al., 2010)

abnormal neuroanatomy | embryonic stage 16 | recessive

(Chu-Lagraff et al., 2010)

short lived

(Hickey et al., 2006)

short lived (with Df(1)446-20)

(Hickey et al., 2006)

short lived (with Ppt1^A179T)

(Hickey et al., 2006)

Phenotype Manifest In

adult brain (with Df(1)446-20)

(Hickey et al., 2006)

adult brain (with Ppt1^A179T)

(Hickey et al., 2006)

ganglion mother cell GMC4-2a | embryonic stage 11

(Chu-Lagraff et al., 2010)

ganglion mother cell GMC4-2a | embryonic stage 11 (with Ppt1^A179T)

(Chu-Lagraff et al., 2010)

ganglion mother cell GMC4-2a | embryonic stage 12

(Chu-Lagraff et al., 2010)

ganglion mother cell GMC4-2a | embryonic stage 12 (with Ppt1^A179T)

(Chu-Lagraff et al., 2010)

larval abdominal lch5 neuron | embryonic stage 17

(Chu-Lagraff et al., 2010)

larval DA1 motor neuron | embryonic stage 11 | increased number

(Chu-Lagraff et al., 2010)

larval DA1 motor neuron | embryonic stage 11 | increased number (with Ppt1^A179T)

(Chu-Lagraff et al., 2010)

larval DA1 motor neuron | embryonic stage 12 | increased number

(Chu-Lagraff et al., 2010)

larval DA1 motor neuron | embryonic stage 12 | increased number (with Ppt1^A179T)

(Chu-Lagraff et al., 2010)

larval longitudinal connective | embryonic stage 17

(Chu-Lagraff et al., 2010)

larval midline neuron | ectopic | embryonic stage 17

(Chu-Lagraff et al., 2010)

larval RP2 motor neuron | embryonic stage 11 (with Ppt1^A179T)

(Chu-Lagraff et al., 2010)

larval RP2 motor neuron | embryonic stage 11 | increased number

(Chu-Lagraff et al., 2010)

larval RP2 motor neuron | embryonic stage 12 (with Ppt1^A179T)

(Chu-Lagraff et al., 2010)

larval RP2 motor neuron | embryonic stage 12 | increased number

(Chu-Lagraff et al., 2010)

larval RP2 motor neuron | embryonic stage 14

(Chu-Lagraff et al., 2010)

larval RP2 motor neuron | embryonic stage 14 (with Df(1)446-20)

(Chu-Lagraff et al., 2010)

larval RP2 motor neuron | embryonic stage 14 (with Ppt1^A179T)

(Chu-Lagraff et al., 2010)

larval RP2 motor neuron | embryonic stage 15

(Chu-Lagraff et al., 2010)

larval RP2 motor neuron | embryonic stage 15 (with Df(1)446-20)

(Chu-Lagraff et al., 2010)

larval RP2 motor neuron | embryonic stage 15 (with Ppt1^A179T)

(Chu-Lagraff et al., 2010)

larval RP2 motor neuron | embryonic stage 16

(Chu-Lagraff et al., 2010)

larval RP2 motor neuron | embryonic stage 16 (with Df(1)446-20)

(Chu-Lagraff et al., 2010)

larval RP2 motor neuron | embryonic stage 16 (with Ppt1^A179T)

(Chu-Lagraff et al., 2010)

ommatidium | adult stage | light conditional

(Midorikawa et al., 2010)

pCC neuron | embryonic stage 11 | increased number

(Chu-Lagraff et al., 2010)

pCC neuron | embryonic stage 11 | increased number (with Ppt1^A179T)

(Chu-Lagraff et al., 2010)

pCC neuron | embryonic stage 12 | increased number

(Chu-Lagraff et al., 2010)

pCC neuron | embryonic stage 12 | increased number (with Ppt1^A179T)

(Chu-Lagraff et al., 2010)

rhabdomere | adult stage | decreased number | light conditional

(Midorikawa et al., 2010)

RP2sib neuron | embryonic stage 11 (with Ppt1^A179T)

(Chu-Lagraff et al., 2010)

RP2sib neuron | embryonic stage 11 | increased number

(Chu-Lagraff et al., 2010)

RP2sib neuron | embryonic stage 12 (with Ppt1^A179T)

(Chu-Lagraff et al., 2010)

RP2sib neuron | embryonic stage 12 | increased number

(Chu-Lagraff et al., 2010)

Detailed Description

Statement

Reference

Ppt1^S77F mutants show no paralysis at elevated temperatures.

Synaptic development appears normal in Ppt1^S77F mutants.

Ppt1^S77F mutant larvae have locomotion defects. The mutants exhibit significantly shorter average locomotor path lengths compared with those of wild-type larvae.

(Aby et al., 2013)

The brains of Ppt1^S77F mutant flies exhibit increased levels of autofluorescent compared to controls. No difference in the levels of autofluorescent deposits is seen in stage 8-17 embryos.

Ppt1^S77F mutant embryos display an abnormal complement of eve-positive neural precursors and neurons at stage 11/12. Many hemisegments exhibit a variety of phenotypes including the loss of GMC4.2a, extra RP2/sib neurons, disorganised eve+ clusters, and extra aCC/pCC cells. Later in development at stages 14-15 loss of eve+ RP2s is observed in a small, but significant, percentage of hemisegments.

Ppt1^S77F mutant stage 17 embryos show mild to severe CNS axon guidance defects; defects range from mild phenotypes such as irregularly spaced axon tracts in commissures and wavy, thinning longitudinal connectives, to more severe phenotypes such as fused commissures and disorganized CNS tracts. At stage 17 disruption is seen to the Fas2-positive longitudinal connectives. Phenotypes vary in severity ranging from loose and defasiculated connectives to ectopic midline crossing.

Chordotonal neurons (lch5) in the developing PNS are abnormal in many Ppt1^S77F mutant stage 17 embryos. Defects include a decreased number of sensory neurons, fused and abnormally shaped neurons, organisational and positional defects and thin axon bundles. No detectable difference is seen in the axon projections in the l, v and v' neuron clusters.

Ppt1^A179T/Ppt1^S77F mutant embryos display an abnormal complement of eve-positive neural precursors and neurons at stage 11/12. Many hemisegments exhibit a variety of phenotypes including the loss of GMC4.2a, extra RP2/sib neurons, disorganised eve+ clusters, and extra aCC/pCC cells. Later in development at stages 14-16 loss of eve+ RP2s is observed in a small, but significant, percentage of hemisegments.

At stages 14-15, Ppt1^S77F/Df(1)446-20 mutant embryos exhibit loss of eve+ RP2s is observed in a small, but significant, percentage of hemisegments.

(Chu-Lagraff et al., 2010)

Ppt1^S77F hemizygous males (Ppt1^S77F/Y) exhibit light-dependent ommatidial degeneration (ommatidium disruption and rhabdomere loss).

(Midorikawa et al., 2010)

Ppt1^S77F/Df(1)446-20 and Ppt1^A179T/Ppt1^S77F flies accumulate abnormal storage material as laminar deposits in their brains.

Ppt1^S77F/Df(1)446-20 and Ppt1^A179T/Ppt1^S77F flies have more abundant autofluorescent inclusions in the brain than control flies.

The median lifespan of Ppt1^S77F/Df(1)446-20 and Ppt1^A179T/Ppt1^S77F flies is reduced 42 and 20% respectively compared to controls.

The median lifespan of Ppt1^S77F hemizygotes is reduced 29% compared to controls.

(Hickey et al., 2006)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

Ppt1^S77F is an enhancer of paralytic | heat sensitive phenotype of shi²

(Aby et al., 2013)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

shi²-Ppt1^S77F double mutants paralyze significantly faster when shifted to 27[o]C than do shi² single mutants.

(Aby et al., 2013)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

30879

w¹¹¹⁸ Ppt1^S77F

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Ppt1^S77F

(Jones et al., 2014, Aby et al., 2013, Chu-Lagraff et al., 2010, Saja et al., 2010, Hickey et al., 2006)

Ppt1S77F

(Midorikawa et al., 2010)

Name Synonyms

Secondary FlyBase IDs

References (6)

Report Sections

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