Allele Dmel\Npc1a^unspecified

General Information
Symbol	Dmel\Npc1a^unspecified	Species	D. melanogaster
Name		FlyBase ID	FBal0221257
Feature type	allele	Associated gene	Dmel\Npc1a

Allele class
Mutagen
Recent Updates
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FB2013_03
FB2013_02
All updates	Click here to see a list of all updates to this record from FB2010_08 and on.
Nature of the Allele
Allele class
Mutagen
Mutations Mapped to the Genome

Type Location Additional Notes References
Associated Sequence Data
DDBJ / EMBL / GenBank	DNA sequence Protein sequence Name

UniProtKB/Swiss-Prot
UniProtKB/TrEMBL

Progenitor genotype
Nature of the lesion	Statement Reference
Cytology
Phenotypic Data
Phenotypic Class
	male sterile, with Npc1a^{Scer\UAS.T:Avic\GFP-EYFP}, Scer\GAL4^2-286 (Wang et al., 2011)
Phenotype Manifest In
	individualization stage spermatid, with Npc1a^{Scer\UAS.T:Avic\GFP-EYFP}, Scer\GAL4^2-286 (Wang et al., 2011) seminal vesicle, with Npc1a^{Scer\UAS.T:Avic\GFP-EYFP}, Scer\GAL4^2-286 (Wang et al., 2011) sperm individualization complex, with Npc1a^{Scer\UAS.T:Avic\GFP-EYFP}, Scer\GAL4^2-286 (Wang et al., 2011)
Detailed Description
	Statement Reference Npc1a[unspecified] males in which lethality has been rescued by expression of Npc1a[Scer\UAS.T:Avic\GFP-EYFP] under the control of Scer\GAL4[2-286] are sterile. The seminal vesicles of the mutant males are much smaller than wild type and contain essentially no mature sperm, but an accumulation of sperm debris is seen in the basal region of the testis. A mild cytokinesis defect (penetrance 5.79%) is seen, but the mutants have a similar number of spermatids per cyst as wild type at the elongated stage. The individualisation complex assembles normally at the head region of the spermatid bundle in the mutant males. However, it gradually disintegrates as it moves along the cyst and scattered actin cones are seen. Some sperm nuclei are scattered along the cyst in the mutant males (in wild-type males they are clustered at the head of the cyst) and these scattered sperm nuclei lose their needle-like shape, becoming more condensed and rounded the further away from the head region they are. 28 +/- 16% of mutant spermatids show defects in individualisation and the average number of spermatids per cyst after individualisation is reduced to 54. Mutant spermatocytes show sterol accumulation and sterol trafficking defects. Individualisation defects are more severe at higher temperatures. The fertility of Npc1a[unspecified] males in which lethality has been rescued by expression of Npc1a[Scer\UAS.T:Avic\GFP-EYFP] under the control of Scer\GAL4[2-286] is significantly increased by addition of 7-dehydrocholesterol in the food, but is not increased by the addition of cholesterol, ergosterol or sitosterol in the food. (Wang et al., 2011)
External Data
Linkouts
Interactions
Phenotypic Class
Phenotype Manifest In
Additional Comments
Genetic Interactions
Statement Reference
Xenogenetic Interactions
Statement Reference
Complementation & Rescue Data
Rescued by	Npc1a^unspecified is rescued by Npc1a^{Scer\UAS.T:Avic\GFP-EYFP}/Scer\GAL4^Hsp83.PA (Wang et al., 2011) Npc1a^unspecified is rescued by Npc1a^{Scer\UAS.T:Avic\GFP-EYFP}/Scer\GAL4^tub.PU (Wang et al., 2011)
Partially rescued by	Npc1a^unspecified is partially rescued by Scer\GAL4^2-286/Npc1a^{Scer\UAS.T:Avic\GFP-EYFP} (Wang et al., 2011)
Not rescued by	Npc1a^unspecified is not rescued by Scer\GAL4^C587/Npc1a^{Scer\UAS.T:Avic\GFP-EYFP} (Wang et al., 2011) Npc1a^unspecified is not rescued by Scer\GAL4^ptc-559.1/Npc1a^{Scer\UAS.T:Avic\GFP-EYFP} (Wang et al., 2011)
Comments	Expression of Npc1a[Scer\UAS.T:Avic\GFP-EYFP] under the control of Scer\GAL4[2-286] partially rescues the Npc1a[unspecified] phenotype; animals are rescued to adulthood, but only 13.3% of the rescued males are fertile, and those that are fertile produce a smaller number of progeny than normal. Expression of Npc1a[Scer\UAS.T:Avic\GFP-EYFP] under the control of either Scer\GAL4[Hsp83.PA] or Scer\GAL4[tub.PU] rescues the lethality of Npc1a[unspecified] animals and results in fertile males. Expression of Npc1a[Scer\UAS.T:Avic\GFP-EYFP] under the control of either Scer\GAL4[C587] or Scer\GAL4[ptc-559.1] rescues the lethality of Npc1a[unspecified] animals but results in sterile males. (Wang et al., 2011)
Stocks ( 0 )

Notes on Origin
Discoverer

External Crossreferences & Linkouts
Other Crossreferences

Linkouts

Synonyms & Secondary IDs ( 1 )
Reported As
Symbol Synonym	Npc1a^unspecified
Name Synonym
Secondary FlyBase IDs

References ( 2 )
Research paper	Wang et al., 2011, Dev. Biol. 351(1): 146--155 The cholesterol trafficking protein NPC1 is required for Drosophila spermatogenesis. [FBrf0212972] Huang et al., 2007, Development 134(20): 3733--3742 Drosophila Niemann-Pick Type C-2 genes control sterol homeostasis and steroid biosynthesis: a model of human neurodegenerative disease. [FBrf0201424]

Allele Dmel\Npc1aunspecified

Allele Dmel\Npc1a^unspecified