FB2024_03 , released June 25, 2024
Allele: Dmel\SxlM1,f3
Open Close
General Information
Symbol
Dmel\SxlM1,f3
Species
D. melanogaster
Name
FlyBase ID
FBal0016704
Feature type
allele
Associated gene
Dmel\Sxl
Associated Insertion(s)
Carried in Construct
Also Known As
SxlM1,fm3, SxlM1fm3, Sxlfm3
Key Links
Genomic Maps

Allele class

loss of function allele

Mutagen
Nature of the Allele
Allele class

loss of function allele

(Bernstein et al., 1995)
Mutagen
gamma ray
(Maine et al., 1985)
Progenitor genotype
SxlM1
(Bernstein et al., 1995, Granadino et al., 1992, Maine et al., 1985)
Cytology
Description

A G is replaced by a C (at the last nucleotide in exon 2, upstream of the SxlM1 lesion) causing a Ser to be replaced by a Thr and potential reduction in protein levels due to inhibition of exon 2 to 4 splicing.

(Bernstein et al., 1995)

No gross alteration in the DNA. Original SxlM1 mutation is intact.

(Maine et al., 1985)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
X:7,091,674..7,091,674 [-]
Nucleotide change:

G7091674C

Reported nucleotide change:

G?C

Amino acid change:

R26T | Sxl-PAA; R26T | Sxl-PB; S26T | Sxl-PD; R26T | Sxl-PF; S26T | Sxl-PG; S26T | Sxl-PH; S26T | Sxl-PJ; S26T | Sxl-PK; S26T | Sxl-PL; R26T | Sxl-PM; S26T | Sxl-PP; S26T | Sxl-PQ; S26T | Sxl-PT; S26T | Sxl-PW; S26T | Sxl-PX; S26T | Sxl-PY; S26T | Sxl-PZ

Reported amino acid change:

S?T

Comment:

Mutation (G to C) in last base of exon 2 leads to a Ser to Thr amino acid change.

(Bernstein et al., 1995)
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
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Recombination across the y-sn interval on the X chromosome of SxlM1,f3/Sxlfs3 females is reduced compared to wild type.

      (Sun and Cline, 2009)

      Homozygous females survive at a low frequency suggesting some residual ability to regulate the dosage compensation system. Females are transformed to phenotypic males.

      (Yanowitz et al., 1999)

      Hypomorph for somatic dosage compensation, severe hypomorph for autoregulation; null for somatic sex determination though the germline functions are near wild-type.

      (Bernstein et al., 1995)

      50% of SxlM1,f3/Sxlf7,M1 females survive indicating some capacity for dosage compensation. Animals have very male-like morphology and have to small body size, and pseudotestes.

      (Horabin et al., 1995)

      SxlM1,f3/Sxlf7,M1 males behave like normal males. SxlM1,f3/Sxlf7,M1 females elicit less courtship than normal females and produce large quantities of the inhibitory pheromones that normal males synthesize. Mutant females also produce very little or none of the female-predominant aphrodisiac pheromone.

      (Tompkins and McRobert, 1995)

      Sxlf7,M1/SxlM1,f3 female heterozygotes exhibit segment spanning muscles in the fifth abdominal segment indicative of a transformation to the male specific phenotype. Somatic development of males is unaffected.

      (Taylor, 1992)

      Homozygous XX flies show a high degree of lethality, the survivors are male.

      (Granadino et al., 1991)

      SxlM1,f3/Sxlf7,M1 transheterozygotes that are chromosomally female (XX) are transformed into "pseudomales". The gonads form testes which are generally non-gametogenic, containing degenerated germ cells and debris or gonial cells whose sex could not be determined. The few gametogenic testes seen (9%) contained only spermatogenic stages.

      (Nothiger et al., 1989)

      A hypomorphic allele selected as an intragenic suppressor of SxlM1 male lethality; maps 0.0065 cM to the right of SxlM1. Only characterized in cis combination with SxlM1. The double mutant is fully viable in males and poorly viable in homozygous females, with escapers being phenotypically male and sterile. Hemizygous females are lethal. Partially complements Sxlf2593, generating true intersexes. Partially complements Sxlf7,M1 with escapers phenotypically male and sterile. Fully complements Sxlfhv1. By itself, double mutant fails to bypass maternal da+ requirement for activation, but can complement Sxlf7,M1 in this regard. Double heterozygote with snf is fertile. male-viable, female-lethal, double-mutant derivative of SxlM1; escaper females

      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Suppressed by
      Statement
      Reference

      SxlM1,f3/Sxlf7,M1 has gonad phenotype, suppressible | partially by traF.Hsp83

      (Waterbury et al., 2000)
      Additional Comments
      Genetic Interactions
      Statement
      Reference

      The phenotype of a reduction in recombination across the y-sn interval on the X chromosome that is seen in SxlM1,f3/Sxlfs3 females is enhanced by otu17/+ ; there is a further reduction in map distance in the double mutants. In addition, the rate of X chromosome nondisjunction is increased eightfold.

      SxlM1,f3, otu17 double heterozygotes show reduced recombination across the y-sn interval on the X chromosome compared to wild type, with the reduction being stronger than the weak reduction seen in SxlM1,f3 single heterozygotes.

      (Sun and Cline, 2009)

      The soma of XX SxlM1,f3/SxlM1,f3 or Sxlf7,M1/SxlM1,f3 animals is feminised by traF.Hsp83. Oogenic development is also promoted in Sxlf7,M1/SxlM1,f3 ; traF.Hsp83 animals, and the ovaries are filled with maturing oocytes at various stages of development. However, mature eggs are not laid. The ovaries of SxlM1,f3/SxlM1,f3 ; traF.Hsp83 animals are filled with "tumourous" chambers containing small undifferentiated germ cells.

      (Waterbury et al., 2000)

      The viability of SxlM1,f3 in female double heterozygous combination with fl(1)3535, fl(1)3546 or l(1)4343 is reduced.

      (Anand et al., 1998)

      SxlM1,f3/Sxlf7,M1; trahs.PM individuals develop as females, with normal ovaries with oogenic cells, though resulting eggs are not laid. None of the ovaries contain spermatogenic cells.

      (Steinmann-Zwicky, 1994)
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Partially complements

      Sxlf2593

      (Lindsley and Zimm, 1992)
      Fails to complement

      Sxldlf

      (Anand et al., 1998)
      Partially rescued by

      SxlM1,f3 is partially rescued by SxlFL.Hsp83

      (Yanowitz et al., 1999)
      Not rescued by

      SxlM1,f3 is not rescued by SxlNΔ.Hsp83

      (Yanowitz et al., 1999)

      SxlM1,f3 is not rescued by SxlFLΔ.Hsp83

      (Yanowitz et al., 1999)
      Comments

      Females rescued by SxlFL.Hsp83 have female like morphology and light body pigmentation. Feminization is incomplete and male structures such as sex comb teeth are often observed. However the feminization of females rescued by SxlFLΔ.Hsp83 is complete. Females rescued by SxlNΔ.Hsp83 have male morphology.

      (Yanowitz et al., 1999)
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      Comments
      Comments

      Sxlf9 fully complements SxlM1,f3. Recombination distance between Sxlf9 and 'f3' of SxlM1,f3 is 0.015cM.

      (Bernstein and Cline, 1994)
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (5)
      References (19)