Monarch Ortholog Phenotypes
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Human (23 sources):
Aplasia/Hypoplasia involving the central nervous system,
Apnea,
Bradycardia,
Brain atrophy,
CNS hypomyelination,
Depressed nasal bridge,
Encephalopathy,
Flexion contracture,
Generalized hypotonia,
Hyperammonemia,
Hyperreflexia,
Hypoplasia of the corpus callosum,
Hypotonia,
Low-set ears,
Micromelia,
Periventricular cysts,
Respiratory insufficiency,
Seizure,
Severe global developmental delay,
Skin rash,
Subependymal cysts,
Ventriculomegaly,
Wide nasal bridge
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Mouse (27 sources):
abnormal amino acid level,
abnormal ammonia homeostasis,
abnormal blood vessel physiology,
abnormal brain vasculature morphology,
abnormal fear-related response,
abnormal food intake,
abnormal locomotor activation,
abnormal postnatal growth,
decreased anxiety-related response,
decreased aspartic acid level,
decreased circulating glucose level,
decreased gamma-aminobutyric acid level,
decreased glutamic acid level,
decreased glutamine level,
decreased locomotor activity,
decreased vertical activity,
embryonic lethality before implantation, incomplete penetrance,
embryonic lethality between somite formation and embryo turning, complete penetrance,
embryonic lethality, complete penetrance,
hippocampus pyramidal cell degeneration,
homeostasis/metabolism phenotype,
increased glycine level,
liver/biliary system phenotype,
no abnormal phenotype detected,
oxidative stress,
postnatal lethality, complete penetrance,
premature death
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View all ortholog results at Monarch
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