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A new mouse mutant, skijumper.

Majid Hafezparast1, Simon Ball, Sharon J Nicholson

  • 1Department of Neurodegenerative Disease, Institute of Neurology, National Hospital for Neurology and Neurosurgery, London WCIN 3BG, UK.

Mammalian Genome : Official Journal of the International Mammalian Genome Society
|August 3, 2002
PubMed
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A new mouse model, skijumper (skimp), exhibits severe neonatal hypoglycemia and death despite feeding. This valuable model may help uncover unknown causes of infant low blood sugar and related mortality.

Area of Science:

  • Genetics
  • Developmental Biology
  • Metabolic Disorders

Background:

  • Neonatal hypoglycemia, or low blood sugar in newborns, is a significant cause of severe illness and mortality, particularly in infants small for gestational age.
  • The underlying causes of many neonatal hypoglycemia cases remain unknown, necessitating the development of new research models.

Purpose of the Study:

  • To characterize a novel mouse mutant, skijumper (skimp), exhibiting symptoms of severe neonatal hypoglycemia.
  • To investigate the genetic and biochemical basis of the skijumper phenotype to understand neonatal morbidity and death.

Main Methods:

  • Phenotypic analysis of skijumper mutant mice, including glucose, glycogen, and ketone level measurements.
  • Genetic mapping to localize the causative mutation on mouse Chromosome 7.

Related Experiment Videos

  • Biochemical analyses, including mass spectrometry and enzyme activity assays, to investigate metabolic pathways such as amino acid metabolism and ketogenesis.
  • Mitochondrial structure and function studies.

    • Main Results:

    • Skijumper pups display severe hypoglycemia, low glycogen and ketone levels, opisthotonos, and mortality within days of birth, despite adequate feeding.
    • Genetic mapping localized the mutation to a 1 cM interval on mouse Chromosome 7.
    • Mass spectrometry excluded major defects in amino acid metabolism.
    • Biochemical analyses did not reveal significant defects in known ketogenesis pathways or mitochondrial function.

    Conclusions:

    • The skijumper mouse mutant presents a novel model for studying neonatal hypoglycemia and associated mortality.
    • The primary biochemical defect in skijumper mice does not appear to involve known enzymes in amino acid metabolism or ketogenesis pathways.
    • Further research using the skijumper model is warranted to elucidate the underlying cause of this severe neonatal condition and its implications for human health.