FlyBase Allele Report: Dmel\spen[5]

General Information

Symbol

Dmel\spen⁵

Species

D. melanogaster

Name

FlyBase ID

FBal0104420

Feature type

allele

Associated gene

Dmel\spen

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

diepoxybutane

Nature of the Allele

Allele class

Mutagen

diepoxybutane

(Kuang et al., 2000)

Progenitor genotype

Cytology

Description

Nucleotide deletion at 2L:192716-192769 .

(Andriatsilavo et al., 2018)

Deletion of nucleotides 39548-39601. The resulting frameshift is predicted to cause premature termination of the protein.

(Kuang et al., 2000)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

2L:192,716..192,769 [+]

Comment:

54bp deletion in the spen coding region.

(Andriatsilavo et al., 2018)

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

increased cell number | adult stage | somatic clone

(Andriatsilavo et al., 2018)

increased occurrence of cell division | adult stage | somatic clone

(Andriatsilavo et al., 2018)

Phenotype Manifest In

Detailed Description

Statement

Reference

Adulthood-generated spen⁵ midgut clones have significantly more cells and show a severe increase in the number of intestinal stem cells (Dl-positive, N-positive, Spdo-positive), but not enteroendocrine (Pros-positive) or enterocyte (polyploid) cells, as compared to control clones; these clones also show a severe increase in the proportion of mitotic cells, namely mitotic stem cells (Dl-positive), as compared to control clones.

spen⁵ clones do not show sensory organ differentiation defects in pupae.

(Andriatsilavo et al., 2018)

Mutant embryos derived from females containing homozygous spen³ germline clones crossed to spen⁵/+ males (lacking both maternal and zygotic spen function) show alterations in the number of many peripheral and central nervous system cell types, and the development of other organs is affected. The number of lateral chordotonal organs in each abdominal hemisegment varies from 0 to 6, and is typically 4 (wild-type number is 5). Clusters containing the normal number are often disorganised. Mutant embryos derived from females containing homozygous spen⁵ germline clones crossed to spen³/+ males (lacking both maternal and zygotic spen function) show alterations in the number of many peripheral and central nervous system cell types, and the development of other organs is affected. The intersegmental nerve motor axon pathway and commissural central nervous system axon tracts are normal in homozygous, hemizygous or spen³/spen⁵ embryos. Defects are seen in the elongation and pathfinding of axons in the intersegmental nerve b (ISNb) and segmental nerve a (SNa) motor axon pathways and in the transverse nerve.