FlyBase Allele Report: Dmel\apt[41]

General Information

Symbol

Dmel\apt⁴¹

Species

D. melanogaster

Name

FlyBase ID

FBal0064957

Feature type

allele

Associated gene

Dmel\apt

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

Progenitor genotype

Cytology

Description

Amino acid replacement: R55C. Nucleotide substitution: C to T substitution (on the top or coding strand) that changes codon 55 from CGC to TGC.

(McGinnis, 1999.10.7)

Amino acid replacement: R55C. Missense mutation in the third exon substituting an A for G. This change occurs within a short repeat of amino acid sequence of acidic-Arg-Thr-X-Asn.

(Gellon et al., 1997)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:23,597,113..23,597,113 [+]

Nucleotide change:

C23597113T

Reported nucleotide change:

C?T

Amino acid change:

Reported amino acid change:

R55C

(McGinnis, 1999.10.7, Gellon et al., 1997)

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

abnormal cell migration | adult stage (with apt^KG05830)

(Starz-Gaiano et al., 2008)

abnormal cell migration | adult stage | somatic clone

(Starz-Gaiano et al., 2008)

lethal | recessive

(Su et al., 1999, Gellon et al., 1997)

Phenotype Manifest In

Detailed Description

Statement

Reference

In ~80% of homozygous apt^KG05830/apt⁴¹ mutant stage 10 egg chambers, 1-7 additional invasive "stretched border cells" are seen, often dramatically stretched out and trailing behind the main cluster.

Egg chambers containing homozygous apt⁴¹ mutant clones in stage 10 egg chambers contain 1-7 additional invasive "stretched border cells", often dramatically stretched out and trailing behind the main cluster. This phenotype is observed even if only a few anterior follicle cells are mutant, but no stretched border cells are seen in wild type cells. No egg chambers are seen where the border cells are the only mutant cells.

(Starz-Gaiano et al., 2008)

Egg chambers of females with homozygous germline clones arrest development in early oogenesis (approximately stage 6) and the oocyte fails to differentiate, with all nuclei becoming polyploid. The egg chambers then degenerate. Some egg chambers have an abnormal number of nuclei.

(Lie and Macdonald, 1999)

Homozygotes die as late embryos or early larvae (14% of homozygous embryos hatch). 30% of homozygous embryos have interruptions in the heart tube. This abnormality becomes obvious shortly before the assembly of the heart precursor cells at the dorsal midline. No obvious defects are seen in somatic or visceral muscle patterning. The heart rate of homozygous embryos or larvae is on average only approximately a quarter of wild type, and, as in wild type, varies over a wide range.

(Su et al., 1999)

Homozygous embryos have severe defects in structures derived from the gnathal segments. The lateral bars of the H-piece and hypostomal sclerites are missing and the lateralgraten are truncated. The ectostomal sclerite and the cross bar of the H-piece are unaffected. The heads are open anteriorly and the dorsal pouch is reduced, replaced by sclerotic rubble. The dorsal bridge is missing or broken.

(Gellon et al., 1997)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Other

Statement

Reference

apt⁴¹, bru1^QB has embryonic head phenotype

(Lie and Macdonald, 1999)

apt⁴¹, bru1^QB, nanos^L7 has embryonic head phenotype

(Lie and Macdonald, 1999)

Additional Comments

Genetic Interactions

Statement

Reference

Embryos derived from a cross of wild-type males to females heterozygous for aret^QB and also heterozygous for apt⁴¹ occasionally have head defects (these defects are not seen in embryos derived from females singly heterozygous for aret^QB or apt⁴¹). This phenotype is largely suppressed if the females are also heterozygous for nos^L7.

(Lie and Macdonald, 1999)

Enhances the lethality of Dfd¹³/Dfd³ flies grown at 29^oC - leaving nearly zero survivors.

(Gellon et al., 1997)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

apt⁵³⁴

(Su et al., 1999)

apt⁰⁶³⁶⁹

(Su et al., 1999)