FlyBase Allele Report: Dmel\Pkd2[1]

General Information

Symbol

Dmel\Pkd2¹

Species

D. melanogaster

Name

FlyBase ID

FBal0156071

Feature type

allele

Associated gene

Dmel\Pkd2

Associated Insertion(s)

Carried in Construct

Also Known As

amo¹

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

FLPase

(Watnick et al., 2003, Watnick et al., 2003)

I-SceI

(Watnick et al., 2003, Watnick et al., 2003)

I-CreI

(Watnick et al., 2003, Watnick et al., 2003)

ends-in gene targeting

(Watnick et al., 2003, Watnick et al., 2003)

Mutations Mapped to the Genome

Type

Location

Additional Notes

References

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Progenitor genotype

Cytology

Nature of the lesion

Statement

Reference

The remaining single copy of Pkd2 contains both the C10T and C2323T nucleotide substitutions from the Pkd2^{6.Scer\SceI.RS} progenitor.

(Watnick et al., 2003)

Nucleotide substitution: C10T.

(Watnick et al., 2003)

Nucleotide substitution: C2323T.

(Watnick et al., 2003)

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 autosomal dominant polycystic kidney disease

CEA

(Hofherr et al., 2016)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Phenotypic Data

Phenotypic Class

male semi-sterile

(Watnick et al., 2003)

male sterile

(Hofherr et al., 2018, Hofherr et al., 2016, Köttgen et al., 2011)

Phenotype Manifest In

motile cilium

(Yang and Lu, 2011)

spermatozoon

(Köttgen et al., 2011, Yang and Lu, 2011, Yang et al., 2011)

spermatozoon (with Pkd2^ko67)

(Yang and Lu, 2011, Yang et al., 2011)

Detailed Description

Statement

Reference

Pkd2¹/Pkd2¹ males are almost completely sterile; they produce motile sperm but these fail to reach the female sperm storage organs.

(Hofherr et al., 2016)

Pkd2¹ mutant adults show normal preference for less solid sucrose-agarose food than a harder one (higher agarose conc., same sucrose content) one in a two-way food choice assay.

(Zhang et al., 2016)

The gustatory aversion of mutant flies to 6mM camphor in a two way-choice test is not significantly different from that seen in wild-type flies.

(Zhang et al., 2013)

Pkd2¹ males produce motile sperm that are transferred to the uterus but do not reach the female storage organs.

Pkd2¹ mutant sperm are capable of swimming backwards, both in the uterus and in the seminal receptacle. Although the baseline beat frequency of Pkd2¹ mutant sperm is similar to wild-type, they fail to demonstrate an increase in beat frequency when released from the uterus (as found in wild-type). This defect is rescued through expression of Pkd2^+t1kb. The swimming speed of Pkd2¹ mutant sperm in the uterus is reduced significantly when compared to wild-type sperm. In addition the dynamic distribution of sperm is altered. Immediately after mating, wild-type sperm cluster near the entrance of the sperm storage organs in the upper third of the uterus, whereas Pkd2¹ mutant sperm do not show this distribution pattern.

(Köttgen et al., 2011)

At PSR entry, 15% of Pkd2^ko67/Pkd2¹ sperm are tail-leading, 30% head-leading, and 12% have fold flagella.

(Yang and Lu, 2011)

96% of Pkd2^ko67 / Pkd2¹ mutant sperm exit the converging tubule with head-leading orientation, as wild type.

In contrast to wild-type sperm, sperm from Pkd2^ko67 / Pkd2¹ males show increased frequencies of head-leading orientation during entry into the proximal seminal receptacle (PSR) and excessive flagellar folding in the PSR lumen. At later time points (1-4 hours after mating), the phenotype is more severe with mostly tangled flagella in the PSR lumen, and the number of mutant sperm that entering the distal seminal receptacle reduced by 100-fold.

(Yang et al., 2011)

Mutant adults show normal avoidance of 1% citronellal in a direct airborne repellent test (DART) assay.

(Kwon et al., 2010)

Mutant third instar larvae show the same preference for 17.5[o]C over 14[o]C in a two-way choice test as do wild-type controls.

(Kwon et al., 2010)

Pkd2¹ mutants retain a preference for 18[o]C (i.e. are thermotactic).

(Kwon et al., 2008)

Matings between single mutant males and wild-type females results in few or no offspring. The opposite cross results in normal numbers of progeny. Testes from mutant flies display normal architecture with typical abundance of germ cells. The motility of mutant sperm is seen to be indistinguishable from that of wild-type. Mutant males display normal courtship behaviour and normal copulation latency and duration. Mutant sperm are successfully transferred to females. However few or no mutant sperm are detected in the seminal receptacles of the female. Storage of mutant sperm in spermathecae is also reduced. In sperm competition assays, mutant sperm are much less effective at producing offspring than wild-type males when they were the second male to mate with a wild-type female.

(Watnick et al., 2003)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Pkd2¹ is rescued by Pkd2^+t1kb

(Hofherr et al., 2016)

Pkd2¹ is rescued by Pkd2^+t1kb

(Hofherr et al., 2016)

Pkd2¹ is rescued by Pkd2^D627V.t1kb/Pkd2^+t1kb

(Köttgen et al., 2011)

Pkd2¹ is rescued by Pkd2^+t1kb

(Köttgen et al., 2011)

Pkd2¹ is rescued by Pkd2^+tWa

(Watnick et al., 2003)

Partially rescued by

Pkd2¹ is partially rescued by Pkd2^D627V.t1kb

(Hofherr et al., 2016)

Pkd2¹ is partially rescued by Pkd2^D627V.t1kb

(Hofherr et al., 2016)

Not rescued by

Pkd2¹ is not rescued by Pkd2^D627V.t1kb

(Köttgen et al., 2011)

Comments

The almost complete male sterility observed in Pkd2¹/Pkd2¹ mutants is fully rescued by combination with Pkd2^+t1kb and very slightly but significantly improved by combination with Pkd2^D627V.t1kb.

(Hofherr et al., 2016)

The presence of Pkd2^+t1kb rescues the sperm storage phenotype found in females mated with Pkd2¹ mutant males as well as the increase in beat frequency found when the sperm are released from the uterus.

The presence of Pkd2^D627V.t1kb is unable to rescue the sperm storage phenotype found in females mated with Pkd2¹ mutant males.

Pkd2¹ mutant male sterility can be rescued upon expression of both Pkd2^+t1kb and Pkd2^D627V.t1kb.

(Köttgen et al., 2011)

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

24495

w¹¹¹⁸; Pkd2¹/CyO

Notes on Origin

Discoverer

Made using ends in homologous recombination (using Scer\FLP1 and Scer\SCEI), followed by a final step using Crei\I-CreI to reduce to a single copy.

(Watnick et al., 2003, Watnick et al., 2003)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Pkd2¹

(Turner et al., 2016, Yang and Lu, 2011, Yang et al., 2011, Kwon et al., 2008)

amo¹

(Rimal and Lee, 2019, Hofherr et al., 2018, Zhang et al., 2016, Zhang et al., 2013, Van Goethem et al., 2012, Köttgen et al., 2011, Kwon et al., 2010, Kwon et al., 2010, Kwon et al., 2008, Watnick et al., 2003, Watnick et al., 2003)

Name Synonyms

Secondary FlyBase IDs

References (15)

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