Phenotypes Associated with This Genotype

Genotype
MGI:3522670

• Allelic Composition: Atp1a2^tm2Kwk/Atp1a2^tm2Kwk
• Genetic Background: B6.129X1-Atp1a2^tm2Kwk

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

increased gamma-aminobutyric acid level ( J:94810 )

• increased extracellular GABA in the brain

mortality/aging

neonatal lethality, complete penetrance ( J:94810 )

• died within 10-15 min after birth from lack of breathing

behavior/neurological

unresponsive to tactile stimuli ( J:94810 )

• lacked response to pinch at birth

no spontaneous movement ( J:94810 )

• lacked spontaneous body movement at birth

respiratory system

respiratory failure ( J:94810 )

• failed to breathe or showed gasping-like mouth opening two to three times and died within 10-15 min

nervous system

abnormal nervous system electrophysiology ( J:94810 )

• respiratory neurons in the ventrolateral medulla recovered more slowly after electrical stimulation

abnormal action potential ( J:94810 )

• neurons in the facial nucleus region became persistently depolarized and could not produce action potentials

abnormal somatic nervous system physiology ( J:94810 )

• spontaneous respiratory rhythm activity was absent in the fourth cervical ventral root

• no response following stimulation of ventrolateral medulla at 0 min

• high intracellular chloride concentrations in ventrolateral medulla neurons at E18.5

abnormal synaptic neurotransmitter level ( J:94810 )

• absent inhibitory neural activities in the respiratory neurons of the ventrolateral medulla