Related Experiment Video
Updated: Jul 27, 2026

12:49
Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
Published on: September 4, 2011
A clinico-genetic investigation of Leydig cell hypoplasia
American Journal of Medical Genetics
|February 1, 1987
Abstract:
We report on a kindred including a patient (46,XY) with typical manifestations of Leydig cell hypoplasia who was born to parents who were first cousins. A sister had secondary amenorrhea possibly due to primary ovarian dysfunction. Analysis of six pedigrees fits to a male-limited autosomal recessive pattern of inheritance; its implication for the mutational dynamics in the populations is evaluated.
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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...

