| Monarch Ortholog Phenotypes
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Human (8 sources):
Abnormality of neutrophils,
Dilated cardiomyopathy,
EMG abnormality,
Elevated circulating creatine kinase concentration,
Lipoatrophy,
Myopathy,
Palmoplantar keratoderma,
Sensorineural hearing impairment
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Mouse (33 sources):
abnormal I band morphology,
abnormal M line morphology,
abnormal impulse conducting system conduction,
abnormal locomotor activation,
abnormal myocardial fiber morphology,
abnormal myocardial fiber physiology,
abnormal myocardium layer morphology,
abnormal sarcomere morphology,
abnormal ventricle myocardium morphology,
cardiac fibrosis,
cardiac interstitial fibrosis,
cardiovascular system phenotype,
decreased aerobic running capacity,
decreased circulating bilirubin level,
decreased circulating lipase level,
decreased grip strength,
decreased myocardial fiber number,
decreased survivor rate,
decreased ventricle muscle contractility,
dilated heart atrium,
dilated heart left ventricle,
dilated heart ventricle,
eye inflammation,
homeostasis/metabolism phenotype,
no abnormal phenotype detected,
postnatal lethality, incomplete penetrance,
premature death,
preweaning lethality, incomplete penetrance,
prolonged HV interval,
prolonged PQ interval,
prolonged QRS complex duration,
prolonged RR interval,
small pupils
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View all ortholog results at Monarch
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Gene expression phenotype annotations where the gene of interest has been
disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from
differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1,
FDR <= 0.05 and an absolute LogFC >= 2.