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Related Concept Videos

Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Epistasis01:39

Epistasis

In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Epistasis Analysis01:09

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
Position-effect Variegation02:32

Position-effect Variegation

In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.
Genetic Lingo01:11

Genetic Lingo

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Pleiotropic effects in Eya3 knockout mice.

Torben Söker1, Claudia Dalke, Oliver Puk

  • 1Helmholtz Center Munich, German Research Center for Environmental Health, Institute of Developmental Genetics, Neuherberg, Germany. tsoeker@web.de

BMC Developmental Biology
|December 24, 2008
PubMed
Summary
This summary is machine-generated.

The Eya3 gene knockout mouse model shows no eye defects but reveals widespread expression and subtle physiological changes, including reduced activity and altered heart function, suggesting potential impacts on aging. This study characterizes the Eya3 gene

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Area of Science:

  • Developmental Biology
  • Genetics
  • Physiology

Background:

  • Mutations in Drosophila eyes absent (eya) cause severe eye defects.
  • Mammalian Eya1-4 functions are partly understood; no Eya3 mouse model existed.
  • This study characterizes a novel Eya3 knockout mouse mutant.

Purpose of the Study:

  • To investigate the physiological and developmental roles of the Eya3 gene.
  • To characterize the phenotype of a newly generated Eya3 knockout mouse model.
  • To understand the function of Eya3 in mammalian development.

Main Methods:

  • Generation and analysis of Eya3 knockout mice.
  • In situ hybridization and beta-Gal staining for expression analysis.
  • Phenotypic analysis using the German Mouse Clinic, including behavioral and physiological assessments.
  • Differential gene expression analysis in heart and brain tissues.

Main Results:

  • Eya3 exhibits widespread expression in mouse and zebrafish embryos, unlike in Xenopus.
  • Eya3 knockout mice show no apparent eye, ear, or kidney defects.
  • Mutants display decreased bone mineral content, shorter body length, altered lung function (tidal volume), and cardiac abnormalities (JT/PQ intervals, QRS amplitude).
  • Behavioral tests reveal increased exploratory behavior but reduced locomotor activity and muscle strength; Nup155 gene expression is downregulated in heart and brain.

Conclusions:

  • Loss of Eya3 does not impact eye development in mice.
  • Eya3 has pleiotropic roles, with widespread embryonic expression.
  • The Eya3 mutation causes a range of subtle physiological changes, potentially more severe in aging mice.
  • Future research should focus on the long-term effects of Eya3 loss in aged mice.