Allele Dmel\Khc²⁷

General Information
Symbol	Dmel\Khc²⁷	Species	D. melanogaster
Name		FlyBase ID	FBal0101625
Feature type	allele	Associated gene	Dmel\Khc

Map ( GBrowse )
Allele class	loss of function allele, amorphic allele - genetic evidence
Mutagen	ethyl methanesulfonate
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	amorphic allele - genetic evidence (Brendza et al., 2000) loss of function allele (Pilling et al., 2006)
Mutagen	ethyl methanesulfonate (Brendza et al., 1999, Djagaeva et al., 2012)
Mutations Mapped to the Genome

Type Location Additional Notes References point mutation 2R:12,157,713..12,157,713 evidence=experimental na_change=C12157713T pr_change=Q65@\|Khc-PA reported_na_change=C513T reported_pr_change=Q65@ (Brendza et al., 1999, Brendza, 2000.3.2)
Associated Sequence Data
DDBJ / EMBL / GenBank	DNA sequence Protein sequence Name

UniProtKB/Swiss-Prot
UniProtKB/TrEMBL

Progenitor genotype
Nature of the lesion	Statement Reference Amino acid replacement: Q65@. (Serbus et al., 2005, Brendza, 2000.3.2, Djagaeva et al., 2012) Nucleotide substitution: C513T. (Brendza, 2000.3.2) Nucleotide substitution: C513T. Amino acid replacement: Q65@. Base and amino acid numbering is according to FBrf0049383. (Brendza et al., 1999)
Cytology
Phenotypic Data
Phenotypic Class
	lethal (with Khc⁶) (Djagaeva et al., 2012) lethal (with Khc²²) (Djagaeva et al., 2012) lethal (with Khc⁷⁴) (Djagaeva et al., 2012) lethal (with Khc^pgs1) (Barbosa et al., 2007) lethal \| embryonic stage (Serbus et al., 2005) lethal \| embryonic stage \| germline clone (Brendza et al., 2000) lethal \| pupal stage (with Khc¹⁷) (Djagaeva et al., 2012) lethal \| recessive (Brendza et al., 2000, Brendza et al., 1999) lethal \| second instar larval stage (with Df(2R)Jp6) (Djagaeva et al., 2012) neuroanatomy defective \| recessive \| somatic clone \| third instar larval stage (Satoh et al., 2008) paralytic (with Khc⁷⁴) (Djagaeva et al., 2012) paralytic \| larval stage (with Khc¹⁷) (Djagaeva et al., 2012) visible \| recessive \| somatic clone (Brendza et al., 2000)
Phenotype Manifest In
	adult cuticle & scutellar bristle \| somatic clone (Brendza et al., 2000) class IV dendritic arborizing neuron \| somatic clone (Satoh et al., 2008) dorsal appendage \| germline clone (Brendza et al., 2002, Duncan and Warrior, 2002) dorsal appendage \| germline clone \| maternal effect (Moua et al., 2011) embryo \| germline clone (Brendza et al., 2000) eye \| somatic clone (Brendza et al., 2000) eye photoreceptor cell & endoplasmic reticulum \| somatic clone (Brendza et al., 2000) eye photoreceptor cell & multivesicular body \| somatic clone (Brendza et al., 2000) eye photoreceptor cell \| somatic clone (Brendza et al., 2000) follicle cell & mitochondrion \| germ-line clone (Cox and Spradling, 2006) germline cyst & mitochondrion \| germ-line clone (Cox and Spradling, 2006) macrochaeta \| somatic clone (Brendza et al., 2000) microchaeta \| somatic clone (Brendza et al., 2000) microtubule (Serbus et al., 2005) microtubule & oocyte \| oogenesis stage S9 \| germ-line clone (Zimyanin et al., 2007) mitochondrial cloud \| germline clone (Cox and Spradling, 2006) mitochondrion (Pilling et al., 2006) mitochondrion (with Khc⁶) (Pilling et al., 2006) mitochondrion (with Khc¹⁷) (Pilling et al., 2006) nurse cell fusome \| germline clone (Cox and Spradling, 2006) ommatidium \| somatic clone (Brendza et al., 2000) oocyte (Mische et al., 2007, Moua et al., 2011) oocyte & nucleus \| germ-line clone (Brendza et al., 2002, Januschke et al., 2002) oocyte \| germline clone (Palacios and St. Johnston, 2002) pole plasm (Cha et al., 2002) pole plasm \| germline clone (Cha et al., 2002) rhabdomere \| somatic clone (Brendza et al., 2000) scutellar bristle \| somatic clone (Brendza et al., 2000) stage S9 oocyte & nucleus \| germ-line clone (Duncan and Warrior, 2002)
Detailed Description
	Statement Reference The 50% lethal phase of Khc[6]/Khc[27], Khc[22]/Khc[27] and Khc[74]/Khc[27] animals on normal and rich food is the third larval instar stage. On poor food, the 50% lethal phase is shifted to the pupal stage. Khc[74]/Khc[27], Khc[75]/Khc[27] and Khc[77]/Khc[27] larvae show reduced flux of neurosecretory dense core vesicles compared to wild type and no flux of mitochondria along the axons. Khc[68]/Khc[27], Khc[23]/Khc[27], Khc[61]/Khc[27], Khc[66]/Khc[27], Khc[62]/Khc[27], Khc[63]/Khc[27], Khc[4]/Khc[27], Khc[64]/Khc[27] and Khc[58]/Khc[27] larvae show reduced flux of neurosecretory dense core vesicles along the axons compared to wild type. Khc[32]/Khc[27], Khc[19]/Khc[27], Khc[17]/Khc[27], Khc[2]/Khc[27], Khc[10]/Khc[27], Khc[11]/Khc[27], Khc[34]/Khc[27], Khc[6]/Khc[27], Khc[76]/Khc[27], Khc[15]/Khc[27] and Khc[22]/Khc[27] larvae show reduced flux of both neurosecretory dense core vesicles and mitochondria along the axons compared to wild type. (Djagaeva et al., 2012) Both anterograde and retrograde flux of axonal mitochondria is inhibited in Khc[22]/Khc[27], Khc[77]/Khc[27], Khc[17]/Khc[27], Khc[76]/Khc[27] and Khc[23]/Khc[27] larvae. 100% of eggs from females containing homozygous germline clones show defects in dorsal appendage morphology; 11% have fused dorsal appendages, 2% have reduced dorsal appendages and 87% have missing dorsal appendages. The velocity of ooplasmic streaming in stage 10B oocytes is dramatically reduced in mutant females compared to wild type. (Moua et al., 2011) Homozygous Khc[27] mutant class IV dendritic arborization (da) neurons in the third instar larva display abnormal dendritic and axonal morphologies. (Satoh et al., 2008) Cytoplasmic streaming is completely arrested in mutant egg chambers. (Mische et al., 2007) In stage 9 oocytes from Khc²⁷ homozygous germline clones, the accumulation of microtubule plus ends in the posterior of the oocyte fails to occur. (Zimyanin et al., 2007) Khc²⁷ mutant clonal prefollicular cysts show premature mitochondrial accumulation at the middle of the fusome compared to wild-type cysts. The Balbiani body is abnormally large in the oocytes that develop from these clones. These defects persist in older follicles. Mitochondria cluster at the apical side of Khc²⁷ young mutant follicle cells (from germline clones) but the mitochondrial distribution is normal in follicles older than stage 7. In Khc²⁷ mutant germline stem cells, all the mitochondria are clumped at the opposite side from the spectrosome, instead of being clustered around the spectrosome as in wild-type stem cells. While mitochondria in dividing cysts are normally spread evenly throughout the cytoplasm, in cysts from Khc²⁷ germline clones, the mitochondria clump away from the fusome. (Cox and Spradling, 2006) In Khc¹⁷/Khc²⁷ larval motor axons, the anterograde and retrograde flux of mitochondria is reduced by 70-90%. The number of mitochondria in these mutant nerves is reduced by 50.5% in segments A2-A3. The reduction in mitochondrial anterograde and retrograde flux is also seen in Khc⁶/Khc²⁷ larval motor axons. Khc²⁷/+ larval nerves contain abundant mitochondria but show a small shift in the mitochondrial anterograde duty cycle from forward runs to pauses and a 16% decrease in anterograde run duration. However, mitochondria in these nerves show an increase in retrograde flux. (Pilling et al., 2006) Khc²⁷ mutants are embryonic lethal. In stage 8-9 Khc²⁷ oocytes, no slow streaming currents are observed, but endosomes do show short-range saltation. The mean velocity for anterior endosomes is approximately 2.8-fold less than in wild-type. In stage 10B-11 Khc²⁷ oocytes, no fast streaming currents are observed. Rather, endosomes undergo short-range saltation and little net displacement, moving approximately 32-fold slower than in wild-type. Yolk endosomes are concentrated towards the posterior, leaving a clear zone at the anterior. (Serbus et al., 2005) When homozygous germ-line clones are made the resulting eggs show defects in their dorsal appendages. Only 1% have normal appendages. Of the remainder 17% have fused appendages. 26% have a rudimentary dorsal bump, and 56% showed no dorsal material. Nuclear positioning is defective in about half of stage 9 and 10 null oocytes. Nuclei appear to accomplish the initial posterior to anterior shift during stage 7. Although some nuclei are mispositioned in stage -8 mutants, there is a marked shift away from the anterior margin in stages 9 and 10. (Brendza et al., 2002) Khc²⁷ germ-line clone oocytes have normal microtubule organization, but markers of the pole plasm are relocated from the posterior pole to other parts of the oocyte cortex. The stage 8 oocytes of Khc²⁷ heterozygotes show partial mislocalisation of pole plasm markers away from the posterior pole, but this defect is largely corrected by stage 9. (Cha et al., 2002) Females in which Khc²⁷ germ-line clones have been induced lay eggs with dorsal appendage defects, ranging from fusion (37%) to posterior displacement and reduction (43%), to complete loss (28%). All of these eggs form an aeropyle at the posterior. The oocyte nucleus is mis-placed in 62% of stage 9-10 Khc²⁷ germ-line clone oocytes. (Duncan and Warrior, 2002) Khc²⁷ germ line clone oocytes have mis-positioned nuclei: the nucleus migrates correctly to the anterior during stage 8, but in about 50% of stage 9 oocytes it does not maintain its anterior position. After anterior detachment, the nucleus maintains a tight association with the lateral cortex. (Januschke et al., 2002) The movement of stau^{αTub67C.T:Avic\GFP-m6}-expressing particles in the nurse cell cytoplasm is indistinguishable from that of wild type in egg chambers derived from homozygous female germline clones, but in the ooplasm most of the particles are static (in contrast to wild type) except for those in the vicinity of the ring canals. The ooplasmic streaming seen in stage 9 and 10b wild-type oocytes is completely abolished in oocytes derived from homozygous female germline clones. The yolk vesicles fail to move in mutant oocytes, although the uptake of the yolk from the follicle cells is unaffected and the oocyte grows at the normal rate. (Palacios and St. Johnston, 2002) Homozygous clones of substantial size can be produced in the eye when the clones are induced 1-2 days after egg laying. Homozygous clones in the wing disc appear to proliferate normally. The mechanosensory bristles in homozygous wing clones are sometimes kinked. Homozygous clones in the eye produce a slightly roughened eye surface. Approximately 20% of the ommatidia within these clones are missing one or two photoreceptors. Some photoreceptors show structural defects, including disordered packing of microvilli and split or buckled rhabdomeres. The number of photoreceptors with such abnormal rhabdomeres varies from clone to clone but never exceeds 5-10%. Defects appear equally severe in small or large clones. No dramatic differences in the organisation of the rough ER or Golgi membranes is seen in homozygous (those with or without contorted rhabdomeres) or neighbouring wild-type photoreceptors. Occasionally, homozygous photoreceptors show a slight increase in the abundance of ER near the Golgi and slightly increased levels of vesicles and multivesicular bodies. No defects in the positioning of mitochondria or nuclei are seen. The defects seen appear to be cell autonomous. Degenerating photoreceptors are seen at a low frequency in flies aged for more than two weeks after eclosion. Bristles in clones in the adult epidermis may lie flat or twisted along the epidermal sheet rather than projecting outward from its surface. The deflection of individual bristles with a tungsten needle usually causes a bend or kink rather than the pivoting needed to elicit the wild-type grooming reflex. The scutellar macrochaetae are usually approximately 20% shorter than normal. This length defect is less evident in shorter macrochaetae and is not seen in microchaetae. The tips of bristles are often contorted and the contortions are most severe at the tips of long macrochaetae, which always have flattened, flared or twisted tips. Microchaetae show bluntness or a slight tip swelling. No defects are seen in the remainder of the integument, including the bristle sockets, the nonsensory hairs of the epidermal cells or the epidermal cuticle sheet. The severity of the defects are not detectably affected by clone size. The cuticle layers of homozygous scutellar bristles are quite thin. This effect is more pronounced at the tips of the bristles than at their bases. (Brendza et al., 2000) Homozygous Khc²⁷ germ-line clones produces embryos that usually arrest before blastoderm formation, with the occasional embryo surviving until early gastrulation stages. (Brendza et al., 2000) Hemizygotes show at least 50% lethality during the second larval instar stage. (Brendza et al., 1999)
External Data
Linkouts
Interactions
	Show the genetic interaction network for Enhancers & Suppressors
Phenotypic Class
Other
Statement Reference Aplip1^EK4, Khc²⁷/Khc[+] has paralytic \| dominant \| larval stage \| posterior phenotype (Horiuchi et al., 2005) Aplip1^EK4, Khc²⁷ has paralytic \| dominant \| larval stage \| posterior phenotype (Horiuchi et al., 2005)
Phenotype Manifest In
Other
Statement Reference Aplip1^EK4, Khc²⁷/Khc[+] has axon phenotype (Horiuchi et al., 2005) Aplip1^EK4, Khc²⁷ has axon phenotype (Horiuchi et al., 2005) Khc²⁷, ens[+]/ens^ΔC has oocyte phenotype (Sung et al., 2008)
Additional Comments
Genetic Interactions
Statement Reference Khc[27]/+ ; ens[ΔC]/+ double heterozygous females show some stratification of late oocytes, suggesting a defect in cytoplasmic streaming. (Sung et al., 2008) Aplip1^EK4/+; Khc²⁷/+ larvae show posterior paralysis in 86% of cases; these mutants also show axonal swelling. Expression of the Aplip1^+tHa transgene fully rescues the posterior paralysis phenotype of Aplip1^EK4/+; Khc²⁷/+ larvae and partially rescues the axonal swelling phenotype. (Horiuchi et al., 2005) Khc²⁷ suppresses the bicaudal phenotype of BicD^D. (Navarro et al., 2004)
Xenogenetic Interactions
Statement Reference
Complementation & Rescue Data
Fails to complement	Khc^5.287 (Januschke et al., 2002) Khc^7.288 (Januschke et al., 2002) Khc^8.70 (Januschke et al., 2002) Khc⁸ (Brendza et al., 1999) Khc^pgs1 (Barbosa et al., 2007)
Rescued by	Khc²⁷ is rescued by Khc^+t7.5 (Cha et al., 2002, Brendza et al., 2000, Brendza et al., 2000)
Comments
Stocks ( 0 )

Notes on Origin
Discoverer

Comments
	Based on the ability of the allele to compromise Khc function, the following alleles can be ranked from strongest to weakest as follows: Khc²⁷ > Khc²³ = Khc¹⁷. (Serbus et al., 2005)
External Crossreferences & Linkouts
Other Crossreferences

Linkouts

Synonyms & Secondary IDs ( 2 )
Reported As
Symbol Synonym	khc²⁷ (Cha et al., 2002, Januschke et al., 2002, Barbosa et al., 2007, Sung et al., 2008, Krauss et al., 2009, Krauss et al., 2009, Boylan et al., 2008, Satoh et al., 2008, Fan et al., 2011, Dahlgaard et al., 2007) Khc²⁷ (Cox and Spradling, 2006, Brendza, 2000.3.2, Zimyanin et al., 2008, Lin et al., 2006, Navarro et al., 2004, Zimyanin et al., 2007, Pilling et al., 2006, Barkus et al., 2008, Mische et al., 2007, Lerit and Gavis, 2011, Djagaeva et al., 2012, Moua et al., 2011)
Name Synonym
Secondary FlyBase IDs

References ( 32 )

Generate a list of	All references relating to this allele ( 32 )

List References by type	Research paper ( 30 ) Supplementary material ( 1 ) Personal communication to FlyBase ( 1 )
Recent research papers ( 4 )
	Djagaeva et al., 2012, Genetics 192(1): 173--183 Three routes to suppression of the neurodegenerative phenotypes caused by Kinesin heavy chain mutations. [FBrf0219395] Fan et al., 2011, PLoS ONE 6(5): e20612 Drosophila Ge-1 Promotes P Body Formation and oskar mRNA Localization. [FBrf0213914] Lerit and Gavis, 2011, Curr. Biol. 21(6): 439--448 Transport of germ plasm on astral microtubules directs germ cell development in Drosophila. [FBrf0213255] Moua et al., 2011, Development 138(6): 1087--1092 Kinesin-1 tail autoregulation and microtubule-binding regions function in saltatory transport but not ooplasmic streaming. [FBrf0213072] Show all research papers ...

Allele Dmel\Khc27

Allele Dmel\Khc²⁷