FlyBase Allele Report: Dmel\Amph[26]

General Information

Symbol

Dmel\Amph²⁶

Species

D. melanogaster

Name

FlyBase ID

FBal0128040

Feature type

allele

Associated gene

Dmel\Amph

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

P-element activity

(Zelhof et al., 2001)

Delta2-3 transposase

(Razzaq et al., 2001)

Progenitor genotype

P{EP}Amph^EP2175

(Razzaq et al., 2001)

Amph^EP2175

(Zelhof et al., 2001)

Caused by aberration

Df(2R)Amph²⁶

Cytology

Description

Imprecise excision of the P{EP} removes 1113 nucleotides downstream from the initiating ATG completely removing the first exon of Amph.

(Razzaq et al., 2001)

Imprecise excision of the P{EP} element, resulting in a 3428bp deletion that removes the entire Amph first exon (deletion extends from -1925 to +1502, coordinates relative to the first nucleotide (+1) of the first methionine of the Amph cDNA).

(Zelhof et al., 2001)

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 centronuclear myopathy 2

CEC

(Collins et al., 2017)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

ameliorates tauopathy

modeled by Hsap\MAPT^4xA.UAS.2N4R

(Dourlen et al., 2017)

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

FlyBase curator comment: 'centronuclear myopathy' subtype 'centronuclear myopathy 2' is associated with gene BIN1, a high-scoring human ortholog of Amph.

(Collins et al., 2017)

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy | third instar larval stage

(Mathew et al., 2003)

abnormal neurophysiology

(Razzaq et al., 2001)

abnormal neurophysiology | larval stage

(Zelhof et al., 2001)

decreased rate of movement | larval stage

(Zelhof et al., 2001)

flightless

(Razzaq et al., 2001, Zelhof et al., 2001)

viable

(Zelhof et al., 2001)

Phenotype Manifest In

abdominal 1 lateral transverse muscle cell | embryonic stage

(Collins et al., 2017)

indirect flight muscle & myofibril

(Razzaq et al., 2001)

indirect flight muscle cell

(Razzaq et al., 2001)

motor neuron

(Razzaq et al., 2001)

muscle cell of ventral longitudinal muscle 3 | larval stage

(Collins et al., 2017)

neuromuscular junction | larval stage

(Zelhof et al., 2001)

NMJ bouton | larval stage

(Mathew et al., 2003)

nucleus

(Collins et al., 2017)

rhabdomere

(Zelhof et al., 2001)

T-tubule

(Ribeiro et al., 2011)

Detailed Description

Statement

Reference

VL3 muscles in Amph²⁶ homozygous larvae exhibit nuclear positioning defects: present significantly shorter internuclear distances but similar nucleus-muscle edge distance and similar distance between nuclear lines, as compared to controls; there are no changes in the distances between the dorsal and ventral ends of the muscle and the nearest nucleus. Homozygous embryonic LT muscles show a small increase in the frequency of individual nuclei near the center of the muscle (nuclei regularly dissociate from a cluster and move into the middle of the muscle, back into the original cluster or move into the other cluster), but no changes in nucleus:muscle area ratio, as compared to controls.

(Collins et al., 2017)

Subsynaptic reticulum in Amph²⁶/Amph²⁶ third instar larval neuromuscular junctions is similar to wild type.

(Koles et al., 2015)

Mutant pharate adults lack T-tubules in the abdominal temporary eclosion muscles, but they show normal muscle attachments.

(Ribeiro et al., 2011)

Synaptic bouton number is significantly reduced at the NMJs of third instar larval Amph²⁶ mutants. In Amph²⁶ mutants, exocytosis of Fas2 is impaired.

(Mathew et al., 2003)

In Amph²⁶ mutant animals, the excitatory junction potentials (EJPs) evoked by 1Hz stimulation are wild-type in amplitude and time course. High frequency stimulation (20 Hz) of the motorneurons leads only to a slow rate of rundown in the evoked response, as also seen in controls. When spontaneous neurotransmitter release (mEJPs) is measured, a small but significant increase in amplitude of the mEJPs is seen in mutant muscles, but the frequency of these events is not altered. The indirect flight muscles (IFMs) in mutant animals are similar to wild-type in appearance, but with slightly looser packing of myofibrils. The T system is severely disorganised and reduced. Many transverse elements of the T system are lost, and the remainder are predominantly longitudinal, and sometimes broader. Dyad junctions are still apparent, but distributed irregularly, and occupy only 42% of the cell volume fraction they occupy in wild-type. They are often larger than in wild-type, sometimes extending over half the length of a sarcomere. Dyads are larger, more elongated than wild-type, mutant T-tubules often have larger diameters.

(Razzaq et al., 2001)

Mutant larvae move sluggishly. Homozygous larvae show a small but significant increase in the quantal size of miniature excitatory junctional potentials (mEJPs) at the neuromuscular junction compared to wild type. There is no change in the amplitude of elicited excitatory junctional potentials (EJPs) compared to wild type. Homozygous adults have superficially normal eyes that respond to light correctly. However, rhabdomere membranes are unusually closely packed and are occasionally fused.

(Zelhof et al., 2001)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Amph²⁶ has abnormal neuroanatomy | third instar larval stage phenotype, enhanceable by Fas2^e76

(Mathew et al., 2003)

Enhancer of

Statement

Reference

Amph²⁶ is an enhancer of abnormal neuroanatomy | third instar larval stage phenotype of Fas2^e76

(Mathew et al., 2003)

Phenotype Manifest In

Enhanced by

Statement

Reference

Amph²⁶ has NMJ bouton | larval stage phenotype, enhanceable by Fas2^e76

(Mathew et al., 2003)

Enhancer of

Statement

Reference

Amph²⁶ is an enhancer of NMJ bouton | larval stage phenotype of Fas2^e76

(Mathew et al., 2003)

Suppressor of

Statement

Reference

Amph²⁶/Amph²⁶ is a suppressor of subsynaptic reticulum | third instar larval stage phenotype of Past1^110-1/Past1^60-4

(Koles et al., 2015)

Amph[+]/Amph²⁶ is a suppressor of rhabdomere phenotype of bif^R38

(Zelhof et al., 2001)

Additional Comments

Genetic Interactions

Statement

Reference

Amph²⁶/Amph²⁶ suppresses subsynaptic reticulum defects seen at Past1^60-4/Past1^110-1 larval NMJs.

(Koles et al., 2015)

Bouton numbers are further reduced at the NMJs of third instar larvae in Fas2^e76;Amph²⁶ double mutants.

(Mathew et al., 2003)

The bif^R38/Y phenotype is partially rescued by Amph²⁶/+; fewer rhabdomeres are split and elongated.

(Zelhof et al., 2001)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Partially rescued by

Amph²⁶ is partially rescued by Amph^A.UAS/Scer\GAL4^hs.PB

(Razzaq et al., 2001)

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

6498

w^*; Amph²⁶

Notes on Origin

Discoverer

Comments

Complements: Sin3A^unspecified.

(Zelhof et al., 2001)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (4)

Reported As

Symbol Synonym

Amph²⁶

(Collins et al., 2017, Dourlen et al., 2017, Bernstein et al., 2016)

amph²⁶

(Okada et al., 2021, Sauerwald et al., 2019, Sheng et al., 2018, Koles et al., 2015, Ribeiro et al., 2011, Zelhof et al., 2001)

amph^mut

(Razzaq et al., 2001)

damph²⁶

(Mathew et al., 2003)

Name Synonyms

Secondary FlyBase IDs

References (11)

Report Sections

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