The study evaluated cardiac function in Alms1-deficient mice to determine whether they recapitulate cardiomyopathy observed in Alström syndrome. Female Alms1-deficient mice developed age-dependent echocardiographic abnormalities consistent with adult-onset cardiomyopathy, including impaired systolic and diastolic function. In contrast, infantile cardiomyopathy, a severe manifestation observed in some Alström syndrome patients, was not reproduced. The findings support a role for ALMS1 in long-term cardiac maintenance and remodeling.
Female Alms1-deficient mice developed adult-onset cardiac dysfunction with echocardiographic abnormalities resembling human Alström syndrome. No evidence of infantile cardiomyopathy was observed, suggesting distinct pathogenic mechanisms between pediatric and adult disease manifestations.
Alms1 Knockout mouse — genOway-developed constitutive loss-of-function model of Alström syndrome
Alström syndrome, cardiomyopathy, cardiac remodeling, ciliopathy, rare disease modeling, metabolic syndrome
Conditional Alms1 Knockout model, longitudinal echocardiography, systolic and diastolic function assessment, sex-specific phenotype analysis, cardiac morphology evaluation, translational cardiomyopathy modeling
From model design to experimental results
Featured in 600+ scientific articles
Collaboration with 17 Top Pharmas,
170+ Biotechs and 380+ Academic Institutions
Generated with biopharma partners and in-house
and guaranteed freedom to operate
Models with certified health status from professional breeders in US and Europe
