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Inborn Errors of Metabolism01:20

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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Related Experiment Video

Updated: May 15, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Kif14 mutation causes severe brain malformation and hypomyelination.

Kohei Fujikura1, Tomiyoshi Setsu, Kenji Tanigaki

  • 1Division of Membrane Dynamics, Department of Physiology and Cell Biology, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan.

Plos One
|January 12, 2013
PubMed
Summary

We discovered the Kif14 gene is essential for brain development in mice. Mutations cause severe motor impairment and growth defects, highlighting Kif14

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Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model

Published on: September 4, 2017

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • A novel mouse mutant, laggard (lag), exhibits motor impairment and growth retardation.
  • The lag mutation is an autosomal recessive trait, leading to cerebellar ataxia and pre-weaning death in homozygous mice.
  • lag/lag mice display reduced brain size and optic nerve abnormalities.

Purpose of the Study:

  • To identify the gene responsible for the laggard phenotype.
  • To elucidate the in vivo function of the Kif14 gene in mammalian brain development.

Main Methods:

  • Positional cloning to identify the mutation in the Kif14 gene.
  • Transgenic complementation with wild-type Kif14-cDNA.
  • Generation and analysis of Kif14 knockout mice.

Main Results:

  • A splice site mutation in Kif14 was identified as the cause of the laggard phenotype.
  • Complementation and knockout studies confirmed Kif14's essential role.
  • lag/lag mice exhibit severe hypomyelination and reduced expression of myelin-related genes.
  • Apoptotic cell death contributes to the disrupted cytoarchitecture of the cerebellum and cerebral cortex.

Conclusions:

  • Kif14 is crucial for the development and maturation of the myelin sheath, cerebellum, and cerebral cortex.
  • This study defines the in vivo biological function of Kif14 in mammals.
  • The laggard mouse model provides a valuable tool for studying brain malformations.