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The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
phenotypes
abnormal PNS synaptic transmission
abnormal atrioventricular cushion morphology
abnormal cardiovascular system physiology
abnormal cranial ganglia morphology
abnormal cranial nerve morphology
abnormal dorsal root ganglion morphology
abnormal endplate potential
abnormal excitatory postsynaptic currents
abnormal glossopharyngeal nerve morphology
abnormal heart morphology
abnormal heart ventricle morphology
abnormal hypoglossal nerve morphology
abnormal intercostal muscle morphology
abnormal iris morphology
abnormal locomotor coordination
abnormal mammary gland growth during pregnancy
abnormal mandibular nerve branching
abnormal mandibular nerve innervation pattern
abnormal miniature endplate potential
abnormal motor neuron innervation pattern
abnormal myelination
abnormal myocardium layer morphology
abnormal nerve conduction
abnormal neural crest cell migration
abnormal neuromuscular synapse morphology
abnormal petrosal ganglion morphology
abnormal phrenic nerve morphology
abnormal prepulse inhibition
abnormal sensory neuron innervation pattern
abnormal spinal nerve morphology
abnormal superior vagus ganglion morphology
abnormal sympathetic ganglion morphology
abnormal trigeminal ganglion morphology
abnormal trigeminal nerve morphology
abnormal vagus nerve morphology
abnormal ventral spinal root morphology
absent Schwann cells
absent mandibular nerve
absent oligodendrocytes
absent trabeculae carneae
absent trigeminal nerve
centrally nucleated skeletal muscle fibers
cyanosis
decreased Schwann cell number
decreased Schwann cell precursor number
decreased cardiac muscle contractility
decreased cardiac output
decreased heart rate
decreased heart weight
decreased left ventricle systolic pressure
decreased motor neuron number
decreased muscle spindle number
decreased radial glial cell number
decreased sensory neuron number
decreased ventricle muscle contractility
defasiculated phrenic nerve
dilated heart ventricle
embryonic growth arrest
embryonic lethality during organogenesis complete penetrance
enhanced long term potentiation
enlarged heart
enlarged pericardium
failure of atrioventricular cushion closure
hyperactivity
increased sensitivity to xenobiotic induced morbidity/mortality
irregular heartbeat
limp posture
mydriasis
neonatal lethality complete penetrance
no spontaneous movement
poor circulation
preweaning lethality complete penetrance
preweaning lethality incomplete penetrance
respiratory failure
small dorsal root ganglion
small nodose ganglion
small petrosal ganglion
thin diaphragm muscle
thin ventricular wall
trabecula carnea hypoplasia
unresponsive to tactile stimuli
weight loss
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