Allele Dmel\Nspl-1
| General Information | |||
|---|---|---|---|
| Symbol | Dmel\Nspl-1 | Species | D. melanogaster |
| Name | FlyBase ID | FBal0012900 | |
| Feature type | allele | Created / Updated | 2006-08-22/2006-08-22 |
| Associated gene | Dmel\N | ||
| Allele class | antimorph, hypomorph, gain of function | ||
| Mutagen | |||
Nature of the Allele
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| Allele class | |||
| Mutagen | |||
| Mapped Features and Mutations | |||
Type Symbol & Location Additional Notes References | |||
| Associated Sequence Data | |||
| DDBJ
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EMBL / GenBank | DNA sequence Protein sequence Name | ||
| UniProtKB/Swiss-Prot | |||
| UniProtKB/TrEMBL | |||
| Progenitor genotype | |||
| Nature of the lesion | Statement Reference Amino acid replacement: I578T. This replacement is within EGF-like repeat 14 of the N extracellular domain. A missense mutation in the extracellular EGF-like domain. Mutation affecting the extracellular domain of N. An amino acid replacement in the 14th EGF-like repeat (FBrf0046120, FBrf0045770). Substitution of an isoleucine for a threonine in EGF-repeat number 14. I to T substitution in the 14th EGF like repeat of the N protein. An amino acid replacement in the EGF-homologous regions of the extracellular domain of the N protein. Point mutation in EGF repeat 14. | ||
| Assay mode | |||
| Carried on aberration | |||
| Cytology | Polytene chromosomes normal. | ||
Phenotypic Data
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Phenotypic Class
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Phenotype Manifest In
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(Li et al., 2003, Hing et al., 1999, Cagan and Ready, 1989, Campos-Ortega and Knust, 1990, Nagel and Preiss, 1999, Lindsley and Zimm, 1992, Rabinow and Birchler, 1990, Xu et al., 1990, Rollins et al., 1999, Lewis, 1945, Shepard et al., 1989, Shellenbarger and Mohler, 1975, Cicak and Oster, 1957, Jones et al., 2006) photoreceptor cell R8 & eye disc | male ommatidium & eye disc | male photoreceptor cell & eye disc | male | |||
Detailed Description
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Statement Reference Homozygotes have rough eyes. Hemizygotes and homozygotes have reduced eyes with an irregular facet arrangement, and missing or doubled bristles are frequently seen. N264-103/Nspl-1 flies show wing nicking and tarsal segment fusion phenotypes and also show the Nspl-1 eye phenotype. The mutant eye and wing phenotypes are more strongly expressed at high temperatures than low temperatures, and tarsal fusion only occurs at high temperatures. At 20-22oC, the eyes approach wild type but usually contain small, irregularly positioned areas of facet disarray, while at 28-29oC the facet disarray extends over the whole surface of the eye. The temperature sensitive periods of these phenotypes occur during the third larval instar stage. Homozygous have small eyes with a rough, pebbly surface. Some bristles are doubled, while others, such as the ocellar, supraalar and presutural bristles are missing, and some extra hairs are present. These phenotypes are the same at 18, 25 and 29oC. The split phenotype becomes dominant if Nspl-1 is coupled, in cis, to lethal Ax alleles. Homozygotes and hemizygotes develop small and rough compound eyes. Some macrochaetae are split or completely missing. The presence of one copy of E(spl)1 causes Nspl-1 to acquire a dominant phenotypic expression in all its traits. Dp(3;3)Su8 exerts a slight enhancing effect of the Nspl-1 phenotype. Dp(2;Y)G44 males crossed to a stock carrying Nspl-1 produce sons that have straight wings or curly wings. Curly wings result from trisomy for the 44C--50B region: enhance the mutant effect of Nspl-1. Adult eyes rough, slightly reduced, with irregular facets and multiple setae. Irregular size, shape and composition of ommatidia: fewer than normal rhabdomeres per ommatidium. Eye disc pattern, shape and size irregular. Haploabnormal wing phenotype. Early ommatidia in homozygous third instar discs are often poorly arranged and contain an abnormal number of cells. Rarely a single photoreceptor cell is found, and mitotic figures occasionally occur abnormally close to the furrow. By midpupation ommatidia often contain abnormal numbers of photoreceptors, cone cells and secondary pigment cells. Bristles are scattered and photoreceptors can be found beneath the retina. The eye is smaller than normal. Temperature shifts of third-instar Nl1N-ts1 larvae phenocopy the external defects of Nspl-1. Small rough eyes and duplicated bristles. Homozygotes have small rough eyes due to reduced number of facets and twinned or missing bristles (FBrf0049795). Eye phenotype can be suppressed by sca and enhanced by extra copies of sca+ and vg+, the bristle phenotype is unaffected. Pronounced eye phenotype. Does not interact with dxENU. Homozygotes and hemizygotes have rough eyes which are slightly reduced in size compared to wild-type. Individual ommatidia are missing and ommatidia often contain fewer photoreceptor cells than normal and have defects in other ommatidial cell types. Photoreceptor cell axons appear normal. The total number of bristles on the basitarsi of the second legs is increased and the number of sensilla is decreased. A number of shaftless, misshapen sockets are seen. Eye discs contain well-spaced clusters of cells with apically disposed nuclei, the number and arrangement of the cells is grossly abnormal. More than one boss-expressing cell was observed within many clusters. Prior to row 6 many cells per cluster contain boss-immunoreactive multivesicular bodies, boss is internalized as soon as boss expression is present on an adjacent cell surface. This correlates with a decrease in the number of R1-R6 neurons and an increase in the number of R7 neurons. Phenotypes have topographic pattern specificities. Homozygotes show duplications and absence of trichogens preferentially in posterior and medial regions of the tergites. Small rough eyes and missing or doubled bristles. Clones mutant for spl on the thorax display a loss of function phenotype: more bristles are formed. Eyes rough and small. Many bristles doubled, sometimes missing. Bristle effect caused by an extra division of initial bristle-forming cell (FBrf0005804). Few bristles (but not their sockets) regularly removed from posterior border of tergites in Nspl-1/+ heterozygotes (Welshons). N64d6 Nspl-1 flies cannot be distinguished from N64d6/+ flies. When Nspl-1 is coupled to N64d6, Nspl-1 is not enhanced by E(spl)1. A temperature-sensitive effect is shown by N264-103/Nspl-1 flies, which have abnormal eye facets at 28-29oC but are almost wild type at 20-22oC. The spl phenotype can be enhanced by E(spl)1/+ or E(spl)1/E(spl)1. Nspl-1/+;E(spl)1/+ flies resemble Nspl-1/Nspl-1 flies; Nspl-1/Nspl-1; E(spl)1/+ and Nspl-1/Y;E(spl)1/+ flies show a very extreme mutant phenotype. Nspl-1/Y; groE73/+ males and Nspl-1/+; groE73/+ females show spl and Ax-like phenotypes (Xu et al.). The spl phenotype is reduced in mam heterozygotes. When, however, Nspl-1 is coupled to a N point mutant, as in N64d6 Nspl-1/++; E(spl)1/+, the phenotype is not spl. The Nspl-1 phenotype becomes dominant if Nspl-1 is coupled, in cis, to lethal Ax alleles. RK1. Macrochaetae and microchaetae lost or affected by abnormal differentiation are those that are most sensitive to Abruptex mutants. In combination with a N null allele, Nspl-1 causes extra macrochaetae and microchaetae. In presence of a N duplication, the mutant phenotype is reduced but not suppressed. Increase in microchaetae density in the mesonotum when in combination with N amorph alleles and absence of macrochaetae when homozygote. Heterozygotes have a neurogenic phenotype and have an increase in the number of thoracic bristles compared to wild-type. The number of bristles is restored almost to wild-type in Nspl-1; Dp(1;2)51b double heterozygotes. Heterozygous females have largely wild-type eyes, although missing or double interommatidial bristles are sometimes seen. Dorsocentral bristles appear split due to a duplication of the bristle shaft at the expense of the socket cell. Conversely, at the back of the head, double sockets appear instead of microchaetae. Homozygous females have smaller eyes of rough appearance due to irregular spacing of ommatidia. Small rough eyes, twinned bristles and missing bristles. Homozygotes show small rough eyes and split bristles. Mutant flies have 120.22 +/- 1.34 thoracic microchaetae per heminotum (compared to the wild-type number of 130.35 +/- 1.54). When Nspl-1 clones are made in the developing eye, animals have fewer ommatidia and ommatidia with less than the normal complement of differentiated cells. Cell death is increased in mutant eyes. Many R8 precursors are absent. In about 13% of ommatidia with Nspl-1 clones ectopic R7 photoreceptor cells are seen. Mutants have a reduced, rough eye with missing or double bristles. | |||
Interactions
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Phenotypic Class
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Enhanced by | |||
Statement Reference | |||
NOT Enhanced by | |||
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Suppressed by | |||
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NOT suppressed by | |||
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Other | |||
Statement Reference | |||
Phenotype Manifest In
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Enhanced by | |||
Statement Reference Nspl-1 has phenotype, enhanceable by Df(2R)Nipped-D263.3 Nspl-1 has phenotype, enhanceable by Df(2R)Nipped-E43 Nspl-1 has phenotype, enhanceable by E(spl)1.tKa Nspl-1 has phenotype, enhanceable by rn[+]/rnroe-KE17 Nspl-1 has phenotype, enhanceable by rn[+]/rnroe-KE18 Nspl-1 has phenotype, enhanceable by rnroe-KE27/rn[+] Nspl-1 has phenotype, enhanceable by rnroe-KE55/rn[+] Nspl-1 has phenotype, enhanceable by rn[+]/rnroe-KE100 Nspl-1 has phenotype, enhanceable by rnroe-KE345/rn[+] Nspl-1 has phenotype, enhanceable by rnroe-KE405/rn[+] Nspl-1 has phenotype, enhanceable by rnroe-KEK2/rn[+] Nspl-1 has phenotype, enhanceable by rnroe-KX314/rn[+] Nspl-1 has phenotype, enhanceable by rnroe-KE89/rn[+] Nspl-1 has phenotype, enhanceable by rn[+]/rnroe-KE113 Nspl-1 has phenotype, enhanceable by rn[+]/rnroe-KE380 Nspl-1 has phenotype, enhanceable by rnroe-KE399/rn[+] Nspl-1 has phenotype, enhanceable by rnroe-KE80/rn[+] Nspl-1 has phenotype, enhanceable by rn[+]/rnroe-KE350 Nspl-1 has phenotype, enhanceable by rnroe-KE409/rn[+] Nspl-1 has phenotype, enhanceable by rn[+]/rnroe-KX316 Nspl-1 has phenotype, enhanceable by E(spl)rv29 Nspl-1 has phenotype, enhanceable by E(spl)rv30 Nspl-1 has phenotype, enhanceable by E(spl)rv31 | |||
NOT Enhanced by | |||
Statement Reference Nspl-1 has phenotype, non-enhanceable by Nipped-A222.3 | |||
Suppressed by | |||
Statement Reference Nspl-1 has phenotype, suppressible by Su(spl)KE7 Nspl-1 has phenotype, suppressible by Df(2R)Nipped-D263.3 Nspl-1 has phenotype, suppressible by E(nd)195ry+3550 | |||
NOT suppressed by | |||
Statement Reference Nspl-1 has phenotype, non-suppressible by Nipped-A222.3 Nspl-1 has phenotype, non-suppressible by Nipped-A394.2 | |||
Nature of the Allele