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相关概念视频

Lethal Alleles02:41

Lethal Alleles

15.4K
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...
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Incomplete Dominance01:43

Incomplete Dominance

22.5K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Pedigree Analysis01:35

Pedigree Analysis

84.2K
Overview
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Sex-linked Disorders01:43

Sex-linked Disorders

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Law of Segregation01:49

Law of Segregation

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When crossing pea plants, Mendel noticed that one of the parental traits would sometimes disappear in the first generation of offspring, called the F1 generation, and could reappear in the next generation (F2). He concluded that one of the traits must be dominant over the other, thereby causing masking of one trait in the F1 generation. When he crossed the F1 plants, he found that 75% of the offspring in the F2 generation had the dominant phenotype, while 25% had the recessive phenotype.
65.9K
X-linked Traits01:19

X-linked Traits

54.9K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
54.9K

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相关实验视频

Updated: Jun 28, 2025

Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing
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Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing

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门德尔障碍中的致命表型

Pilar Cacheiro1, Samantha Lawson2, Ignatia B Van den Veyver3

  • 1William Harvey Research Institute, Queen Mary University of London, London, United Kingdom.

Genetics in medicine : official journal of the American College of Medical Genetics
|April 17, 2024
PubMed
概括
此摘要是机器生成的。

这项研究基于致命的表型对人类基本基因进行了分类,揭示了人类和小鼠模型之间的差异. 致命的表型门户网站有助于诊断早期致命的情况,并了解基因的基本性.

关键词:
基本的基因 基本的基因致命的小鼠敲击方式致命的表型 致命的表型门德尔的障碍 门德尔的障碍 门德尔的障碍新的基因发现.

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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In Vivo Modeling of the Morbid Human Genome using Danio rerio

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相关实验视频

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Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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In Vivo Modeling of the Morbid Human Genome using Danio rerio

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科学领域:

  • 遗传学 是一个遗传学.
  • 发展生物学 发展生物学
  • 人体生理学 人体生理学

背景情况:

  • 现有的基因实用性资源依赖于细胞增殖,小鼠淘汰或种群测序.
  • 目前的遗传数据库中缺乏关于致命表型的全面报告.

研究的目的:

  • 建立基于致命的表型的人类基本基因的全面目录.
  • 帮助临床医生诊断早期致命疾病,帮助研究人员了解基因基本性.

主要方法:

  • 在线查询曼德尔遗传在人类的致死性术语.
  • 根据最早记录的死亡年龄对相关疾病进行分类的门德尔基因.
  • 从小鼠模型中检查了基因活力证据.

主要成果:

  • 开发了Lethal Phenotypes Portal,这是一个精心策划的人类基本基因的目录.
  • 在死亡率类别中鉴定了遗传模式,受影响系统和疾病类别的差异.
  • 在小鼠模型和人类数据中观察到致命的表型之间的差异.

结论:

  • 致命的表型门户网站将有助于诊断早期致命的情况.
  • 该资源将支持对定义基本人类发育基因的属性的研究.