FlyBase Allele Report: Dmel\Sb[Spi]

General Information

Symbol

Dmel\Sb^Spi

Species

D. melanogaster

Name

Spike

FlyBase ID

FBal0015148

Feature type

allele

Associated gene

Dmel\Sb

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

antimorphic allele - genetic evidence

neomorphic allele - genetic evidence

Mutagen

X ray

Nature of the Allele

Allele class

antimorphic allele - genetic evidence

(Hammonds and Fristrom, 2006)

neomorphic allele - genetic evidence

(Gotwals and Fristrom, 1991)

Mutagen

X ray

(Gotwals and Fristrom, 1991)

Progenitor genotype

Cytology

Description

Amino acid replacement: T428I.

(Hammonds and Fristrom, 2006)

In addition, to the T428I amino acid replacement, there is also a deletion of an A nucleotide in the first position of the C-terminal arginine codon of exon 11, resulting in a frameshift with the substitution of the Arg residue by Asp, and an addition of 23 amino acid residues. The intron between exons 6 and 7 also contains a 7bp tandem repeat (that is also present in Sb^sbd-2).

(Hammonds and Fristrom, 2006)

Nucleotide substitution: C?T.

(Hammonds and Fristrom, 2006)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

3R:16,144,757..16,144,757 [+]

Comment:

The deletion of the A residue in the terminal Arg codon causes a frameshift and 23 additional amino acids.

(Hammonds and Fristrom, 2006)

point_mutation

3R:16,142,807..16,142,807 [+]

Nucleotide change:

C16142807T

Reported nucleotide change:

C?T

Amino acid change:

T428I | Sb-PA; T428I | Sb-PB

Reported amino acid change:

T428I

(Hammonds and Fristrom, 2006)

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

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

viable

(Hammonds and Fristrom, 2006)

viable (with Df(3R)sbd105)

(Hammonds and Fristrom, 2006)

visible

(Hammonds and Fristrom, 2006)

visible | dominant

(Gotwals and Fristrom, 1991)

Phenotype Manifest In

chaeta

(Hammonds and Fristrom, 2006)

chaeta (with Df(3R)sbd105)

(Hammonds and Fristrom, 2006)

leg

(Hammonds and Fristrom, 2006)

leg (with Df(3R)sbd105)

(Hammonds and Fristrom, 2006)

Detailed Description

Statement

Reference

Homozygotes have malformed legs and have bristles that are approximately 1/4 wild-type length and have blunt ends.

Homozygotes and Sb^Spi/Df(3R)sbd105 animals have a malformed leg phenotype and abnormal bristles.

(Hammonds and Fristrom, 2006)

Sb¹, T(2;3)Sb^V, and Sb^Spi are much less severe in phenotype, both in bristle length and frequency and severity of malformation of appendages, than Sb^63b and Sb⁷⁰.

(Appel, 1995)

Bristles are short and thick. zip interacts to some degree with all Sb dominant mutations.

(Gotwals and Fristrom, 1991)

Bristles of Sb^Spi/+ about two-thirds normal length. Wings and legs normal. Bristles of homozygote one-fourth normal length. Wings reduced, crumpled, or blistered. Legs often short and bowed. Sb^Spi/Sb¹ viability about 30% wild type. Bristles and wings shorter than homozygous Sb^Spi. RK1. intermediate allele homozygous viable

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Other

Statement

Reference

Rho1^E3.10, Sb[+]/Sb^Spi has visible phenotype

(Bayer et al., 2003)

Rho1^J3.8, Sb[+]/Sb^Spi has visible phenotype

(Bayer et al., 2003)

Df(2R)Jp8/+, Sb^Spi has visible | dominant phenotype

(Bayer et al., 2003)

Rho1^E3.10/Rho1[+], Sb^Spi has visible | dominant phenotype

(Bayer et al., 2003)

Rho1^J3.8/Rho1[+], Sb^Spi has visible | dominant phenotype

(Bayer et al., 2003)

Phenotype Manifest In

Other

Statement

Reference

Rho1^E3.10, Sb^Spi has leg phenotype

(Bayer et al., 2003)

Rho1^J3.8, Sb^Spi has leg phenotype

(Bayer et al., 2003)

Df(2R)Jp8/+, Sb^Spi has leg phenotype

(Bayer et al., 2003)

Rho1^E3.10/Rho1[+], Sb^Spi has leg phenotype

(Bayer et al., 2003)

Rho1^J3.8/Rho1[+], Sb^Spi has leg phenotype

(Bayer et al., 2003)

Additional Comments

Genetic Interactions

Statement

Reference

Sb^Spi shows a weak interaction (5-24% of double heterozygotes have at least one malformed leg) with the following mutations: Rho1^J3.8, Rho1^E3.10 and Df(2R)Jp8.

(Bayer et al., 2003)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Partially rescued by

Sb^Spi/Sb[+] is partially rescued by Sb^hs.PB

(Hammonds and Fristrom, 2006)

Not rescued by

Sb^Spi/Df(3R)sbd105 is not rescued by Sb^hs.PB

(Hammonds and Fristrom, 2006)

Comments