FB2025_01 , released February 20, 2025
Allele: Dmel\caz383
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General Information
Symbol
Dmel\caz383
Species
D. melanogaster
Name
FlyBase ID
FBal0265755
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
caz1
Key Links
Genomic Maps

Allele class
Nature of the Allele
Allele class
Progenitor genotype
Caused by aberration
Cytology
Description

Imprecise excision of P{EP}cazEP1564 resulting in a deletion that removes 2443 bp of the caz coding sequence and 3251 bp of the upstream region including the entire caz promoter. The deletion also disrupts CG32576.

Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Comment:

Approximate boundaries of the caz383 deletion, which was reported as a small deletion that removes 2,443 bp of the caz gene and 3,251 bp of upstream sequences including the entire caz promoter. The boundaries are approximate because it's not clear what coordinate was used as the beginning of the caz gene. The deletion was mapped from a transcription start at X:16182879 (R5 coordinates).

Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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 )
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

caz383 homozygotes are semi-lethal and the few eclosing adults are not able to climb. These mutants also show impaired larval locomotion in crawling assays, as compared to controls.

caz383 homozygotes show a decrease in the axonal transport both of mitochondria and of (NPY-positive) vesicles (i.e. significant increases in stationary fraction) in third instar larval motor neurons, as compared to controls.

Third instar larvae which are mutant for 'caz1' (FlyBase curator comment: this mutant corresponds to Df(1)383 onto which a transgene containing CG32576+t5.0 has been recombined to provide CG32576[+] function) display increased evoked excitatory junction potential (EJP) amplitude compared with controls. This increase is due to an approximately 25% increase in mEJP amplitude without affecting quantal content. The mutants have normal mEJP frequency. Active zones of caz1 mutant animals appear normal.

The neuromuscular junctions of 'caz1' mutants (FlyBase curator comment: this mutant corresponds to Df(1)383 onto which a transgene containing CG32576+t5.0 has been recombined to provide CG32576[+] function) experience a decrease in the amplitude of excitatory junctional currents (EJCs), compared to wild-type. The rate of EJC decay in markedly increased in caz1 mutants compared to controls (decay time constants are approximately 35% of those in controls). This substantial change in decay kinetics, in combination with the decrease in EJC amplitude, results in an even more profound decrease in the integrated synaptic current.

Male larvae hemizygous for the 'caz1' mutant chromosome (Df(1)383 onto which a transgene containing CG32576+t5.0 has been recombined to provide CG32576[+] function) are morphologically normal. However, only 14% of these animals eclose as adults.

caz1/Y adult escapers show a 57% decrease in average life span compared to controls. They also show a number of external defects, including a mild rough eye phenotype, abnormal genitalia and defects in both bristles and wing vein organisation.

caz1/Y adult escapers have prominent locomotion defects. Most are unable to fly, and compared to controls, they walk slowly, often fall over, and have difficulty righting themselves. They show a 55.9% decrease in climbing ability in a negative geotaxis assay abd a 67.6% decrease in locomotor speed compared to controls.

The brains of 25 day old caz1/Y adult escapers do not show evidence of vacuolization or other evidence of extensive neuronal death.

External Data
Interactions
Show genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Suppressed by
Statement
Reference
NOT suppressed by
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement
Reference

Expression of TBPHScer\UAS.10x.T:Avic\GFP-YFP.Venus in the nervous system under the control of Scer\GAL4elav-C155 does not rescue the reduced viability, locomotion defects or reduced longevity of adult males hemizygous for the 'caz1' mutant chromosome (Df(1)383 onto which a transgene containing CG32576+t5.0 has been recombined to provide CG32576[+] function).

The neuromuscular junction expansion induced by the overexpression of TBPHScer\UAS.10x.T:Avic\GFP-YFP.Venus under the control of Scer\GAL4RapGAP1-OK6 is completely suppressed in a 'caz1'/Y background.

Xenogenetic Interactions
Statement
Reference

The decreased axonal transport of mitochondria in caz383 homozygous third instar larval motor neurons is rescued by the expression of either Hsap\FUSScer\UAS.10x.T:Zzzz\FLAG or Hsap\FUSP525L.10x.Scer\UAS.T:Zzzz\FLAG under the control of Scer\GAL4CCAP.PI; their decreased axonal transport of (NPY-positive) vesicles is rescued by the expression of Hsap\FUSScer\UAS.10x.T:Zzzz\FLAG, but not or Hsap\FUSP525L.10x.Scer\UAS.T:Zzzz\FLAG, under the control of Scer\GAL4CCAP.PI.

The semi-lethality, the decreased third instar larval crawling capacity and the decreased adult climbing capacity observed in caz383 homozygotes are fully/nearly fully suppressed by the expression of either Hsap\FUSScer\UAS.10x.T:Zzzz\FLAG or Hsap\FUSP525L.10x.Scer\UAS.T:Zzzz\FLAG under the control of Scer\GAL4Toll-6-D42.

Expression of either Hsap\FUSScer\UAS.10x.T:Zzzz\FLAG, Hsap\FUSP525L.10x.Scer\UAS.T:Zzzz\FLAG or Hsap\FUSR522G.10x.Scer\UAS.T:Zzzz\FLAG in the nervous system under the control of Scer\GAL4elav-C155 almost completely rescues the adult viability of males hemizygous for the 'caz1' mutant chromosome (Df(1)383 onto which a transgene containing CG32576+t5.0 has been recombined to provide CG32576[+] function) - the level of rescue seen with each Hsap\FUS transgene is not significantly different from that seen when a transgene containing wild-type caz is expressed using the same driver.

Expression of Hsap\FUSScer\UAS.10x.T:Zzzz\FLAG under the control of Scer\GAL4elav-C155 strongly rescues the locomotor defects seen in caz1/Y adult males, to a level that is not significantly different from that seen when a transgene containing wild-type caz is expressed using the same driver.

Expression of Hsap\FUSP525L.10x.Scer\UAS.T:Zzzz\FLAG under the control of Scer\GAL4elav-C155 partially rescues the locomotor defects seen in caz1/Y adult males.

Expression of Hsap\FUSR522G.10x.Scer\UAS.T:Zzzz\FLAG under the control of Scer\GAL4elav-C155 does not rescue the locomotor defects seen in caz1/Y adult males.

Expression of Hsap\FUSScer\UAS.10x.T:Zzzz\FLAG under the control of Scer\GAL4elav-C155 completely rescues the reduced longevity of adult caz1/Y escapers.

Expression of either Hsap\FUSP525L.10x.Scer\UAS.T:Zzzz\FLAG or Hsap\FUSR522G.10x.Scer\UAS.T:Zzzz\FLAG under the control of Scer\GAL4elav-C155 does not rescue the the median lifespan of adult caz1/Y escapers, although maximum lifespan is increased.

Complementation and Rescue Data
Partially rescued by
Comments

The semi-lethality, the decreased third instar larval crawling capacity and the decreased adult climbing capacity observed in caz383 homozygotes are rescued by the expression of either cazScer\UAS.x10.T:Zzzz\FLAG or cazP398L.10x.Scer\UAS.T:Zzzz\FLAG under the control of Scer\GAL4Toll-6-D42.

The decreased axonal transport of mitochondria in caz383 homozygous third instar larval motor neurons is rescued by the expression of either cazScer\UAS.x10.T:Zzzz\FLAG or cazP398L.10x.Scer\UAS.T:Zzzz\FLAG under the control of Scer\GAL4CCAP.PI; their decreased axonal transport of (NPY-positive) vesicles is rescued by the expression of cazScer\UAS.x10.T:Zzzz\FLAG, but not or cazP398L.10x.Scer\UAS.T:Zzzz\FLAG, under the control of Scer\GAL4CCAP.PI.

cazT:Zzzz\FLAG rescues the electrophysiological defects seen in 'caz1' mutants (FlyBase curator comment: this mutant corresponds to Df(1)383 onto which a transgene containing CG32576+t5.0 has been recombined to provide CG32576[+] function).

caz+tBID rescues the lethality of males hemizygous for the 'caz1' chromosome (FlyBase curator comment: this chromosome corresponds to Df(1)383 onto which a transgene containing CG32576+t5.0 has been recombined to provide CG32576[+] function).

cazT:Zzzz\FLAG fully rescues the reduced adult viability of males hemizygous for the 'caz1' mutant chromosome (Df(1)383 onto which a transgene containing CG32576+t5.0 has been recombined to provide CG32576[+] function). The reduced longevity, locomotion defects and external morphological defects of adult caz1/Y escapers are also fully rescued by cazT:Zzzz\FLAG.

Expression of cazScer\UAS.x10.T:Zzzz\FLAG in the nervous system under the control of Scer\GAL4elav-C155 rescues the adult viability of males hemizygous for the 'caz1' mutant chromosome (Df(1)383 onto which a transgene containing CG32576+t5.0 has been recombined to provide CG32576[+] function) to 83.7% of control levels. The locomotion defects seen in caz1/Y adult escapers are also strongly, but not completely rescued in these animals, while longevity is completely rescued.

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Synonyms and Secondary IDs (2)
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Secondary FlyBase IDs
    References (6)