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General Information
Symbol
Dmel\RafC2Z2
Species
D. melanogaster
Name
FlyBase ID
FBal0032419
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Also Known As
D-rafC2Z2
Key Links
Nature of the Allele
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Nucleotide change:

A2342564T

Amino acid change:

E473V | Raf-PA; E473V | Raf-PE

Reported amino acid change:

E516V

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

Associated Sequence Data
DNA sequence
Protein sequence
 
 
Progenitor genotype
Cytology
Nature of the lesion
Statement
Reference

Amino acid replacement: E516V. E516V falls in CR3 domain of protein.

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 ( 0 )
Disease
Evidence
References
Modifiers Based on Experimental Evidence ( 0 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

Homozygous embryos exhibit defects in posterior pattern. Injection of wild type RNA fails to rescue the defects.

Class 1 allele: Unrescued embryos (lacking maternal and zygotic phl activity) fail to differentiate into structured embryos and degenerate around 7 hrs of development. Rescued embryos (carrying wild type phl from their father) miss most structures posterior to abdominal segment 6 or 7 and anteriorly a portion of the cephalopharyngeal skeleton, labral sense organ and medial tooth are deleted. fkh expression (in wild type evident in hindgut, Malpighian tubule(s) and anal pads) entirely absent from class 1 embryos. Expression of tll, hkb, hb, fkh absent from both rescued and unrescued embryos, 7th ftz stripe deleted and 6th ftz stripe variably deleted/expanded. Conclude from 0% to 20--25% EL of blastoderm embryos deleted in class 1 alleles.

A hole is seen in the blastoderm layer below the pole cells in embryos. Ventral furrow formation extends posteriorly to approximately 5% egg length. The posterior midgut invagination does not occur. 10% of embryos twist along the dorsal-ventral axis at germband extension to produce corkscrew shaped embryos. Comparison of embryos derived from homozygous germline clones reveal a zygotic requirement for phl : "pole hole" embryos (which have zygotic phl function) undergo germ band shortening and show the "terminal class" phenotype upon completing development. Posterior phenotype: A deletion of terminal identities is observed and cells forming in this region assume more anterior fates. The remaining most posterior segments (typically A5, A6 and A7) are expanded. This altered segmental pattern is first seen at the blastoderm stage. Deformation of the CNS ladder is observed for many embryos after nerve cord condensation. Usually the anterior and posterior commissures are normal in the last complete terminal segment, but breaks in the longitudinal axis of the CNS are seen. In some cases the sensory cells of the PNS are displaced laterally in the expanded abdominal segments. In addition, fusion of the dorsal cell cluster along the dorsal midline is observed, and the positions of the lateral chordotonal organs are shifted dorsally in the most posterior complete segment of the embryo. Anterior phenotype: Several head defects are also apparent in mature "pole hole" embryos, these arise in structures derived from the labrum and acron. Much of the supraoesophageal ganglia (brain) is missing at 16 hours. The optic lobes are also altered. The labral sense organ (epiphysis) is missing. Cell death is seen in the head and tail regions. In contrast, although "null" embryos (which have no zygotic phl function) appear phenotypically equivalent to "pole hole" embryos until the completion of germband extension, development ceases at this elongated germband stage, and they do not undergo germband shortening. After 20 hours of development the embryos consist of a ball of embryonic tissue at the anterior egg pole, and an extruded mass of egg yolk at the posterior pole. The overall organisation and differentiation of organ systems within the embryo is abnormal, due to incomplete development and massive cell death. The development of the nervous system is severely affected.

External Data
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
Not rescued by

RafC2Z2 is not rescued by RafcBa

Comments
Images (0)
Mutant
Wild-type
Stocks (0)
Notes on Origin
Discoverer
Comments
Comments

Comparison of homozygotes for this allele with heterozygotes for this allele and Df(1)64c18 (deleted for phl) is the basis for amorph designation. Induced in screen described in Perrimon et al., Dev. Biol. 110: 480.

External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (4)
Reported As
Name Synonyms
Secondary FlyBase IDs
    References (6)