| Monarch Ortholog Phenotypes
|
Human (40 sources):
Abnormal facial shape,
Abnormal foot morphology,
Abnormality of neuronal migration,
Cerebellar hypoplasia,
Decreased motor nerve conduction velocity,
Decreased patellar reflex,
Delayed ability to walk,
Difficulty running,
Distal muscle weakness,
Distal sensory impairment,
Downslanted palpebral fissures,
EMG: neuropathic changes,
Falls,
Focal-onset seizure,
Frequent falls,
Gait disturbance,
Global developmental delay,
Hypoplasia of the brainstem,
Hypoplasia of the corpus callosum,
Hyporeflexia,
Hypotonia,
Intellectual disability,
Limb muscle weakness,
Microcephaly,
Motor delay,
Pachygyria,
Peripheral axonal neuropathy,
Peripheral neuropathy,
Pes cavus,
Plagiocephaly,
Prominent forehead,
Proximal lower limb amyotrophy,
Proximal muscle weakness in lower limbs,
Seizure,
Small hand,
Somatic sensory dysfunction,
Spastic tetraplegia,
Spinal muscular atrophy,
Type 2 muscle fiber predominance,
Waddling gait
[+]
|
Mouse (20 sources):
abnormal axonal transport,
abnormal grip strength,
abnormal motor neuron innervation pattern,
abnormal neuromuscular synapse morphology,
abnormal postnatal growth,
abnormal resting posture,
abnormal vocalization,
absent suckling reflex,
aphagia,
decreased grip strength,
decreased motor neuron number,
decreased spinal cord ventral horn cell number,
embryonic lethality between implantation and somite formation, complete penetrance,
embryonic lethality between somite formation and embryo turning, complete penetrance,
impaired limb coordination,
increased susceptibility to weight gain,
limb grasping,
muscle phenotype,
neonatal lethality, complete penetrance,
neuronal intranuclear inclusions
[+]
|
View all ortholog results at Monarch
|
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.