Allele/Variant

RpS23R67K

Species
Drosophila melanogaster
Symbol
RpS23R67K
Category
allele
Allele of gene
RpS23
Transgenic Constructs
None
Synonyms
  • RPS23[R67K]
  • RpS23[R67K]
Description
The third exon of the endogenous RpS23 locus has been replaced with a version that encodes a R67K amino acid substitution. The same amino acid substitution has been identified in the orthologous human RPS23 gene in a patient with growth retardation and mild autism. In addition, the third exon is flanked by loxP sites (a Disc\RFPmCherry.3xP3 marker is also present within this loxP cassette, downstream of the RpS23 coding sequence). An attP site is also present within the second intron, upstream of the first loxP site of the cassette.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
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