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Related Experiment Videos

Alms1-disrupted mice recapitulate human Alström syndrome.

G B Collin1, E Cyr, R Bronson

  • 1The Jackson Laboratory, Bar Harbor, ME 04609, USA.

Human Molecular Genetics
|July 8, 2005
PubMed
Summary

Alström syndrome (AS) is caused by ALMS1 gene mutations. This study created Alms1-/- mice that mimic AS symptoms, revealing ALMS1

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Area of Science:

  • Genetics and Molecular Biology
  • Animal Models
  • Human Disease Research

Background:

  • Alström syndrome (AS) is a rare genetic disorder caused by mutations in the ALMS1 gene.
  • AS presents with progressive neurosensory deficits and metabolic abnormalities, including obesity and Type 2 diabetes.
  • The function of the ALMS1 protein remains largely unknown.

Purpose of the Study:

  • To develop and characterize a mouse model for Alström syndrome.
  • To investigate the role of the ALMS1 gene in disease pathogenesis.
  • To study the etiology of AS-related pathologies in a preclinical setting.

Main Methods:

  • Generation of Alms1-/- mice using a gene-trapped ES cell line.
  • Phenotypic analysis of Alms1-/- mice, including metabolic, retinal, and auditory assessments.

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  • Histological and ultrastructural examination of retinal tissues (electron microscopy, immunohistochemistry).

    • Main Results:

    • Alms1-/- mice recapitulated key features of AS, including obesity, hyperinsulinemia, insulin resistance, and hyperglycemia.
    • Retinal dysfunction was observed early, characterized by diminished cone ERG b-wave responses and photoreceptor degeneration.
    • Late-onset hearing loss and mislocalization of rhodopsin were noted in Alms1-/- mice.
    • Accumulation of intracellular vesicles in photoreceptor inner segments was identified.

    Conclusions:

    • The Alms1-/- mouse model effectively mimics human Alström syndrome.
    • ALMS1 plays a crucial role in intracellular trafficking, particularly within photoreceptor cells.
    • These findings provide insights into the molecular mechanisms underlying Alström syndrome.