Phenotypes Associated with This Genotype

Genotype
MGI:5620503

• Allelic Composition: Gnao1^tm2.1Rneu/Gnao1⁺
• Genetic Background: B6.129S-Gnao1^tm2.1Rneu

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

mortality/aging

premature death ( J:216850 )

• mice that survive to weaning exhibit lethality starting at around 80 days with about 50% dying by 25 weeks of age

• the 50% that survive to 25 weeks show little further premature lethality

postnatal lethality, incomplete penetrance ( J:216850 )

• Background Sensitivity: premature lethality occurs after E18.5 but before 2 weeks of age on the C57BL/6J background but not on a 129S1/SvImJ background

behavior/neurological

abnormal kindling response ( J:216850 )

• Background Sensitivity: mice exhibit faster sensitization to pentylenetetrazol (PTZ) kindling than controls on the C57BL/6J background but not on a 129S1/SvImJ background

nervous system

abnormal nervous system physiology ( J:216850 )

♀ • 24-week old female mice exhibit elevated frequency of interictal epileptiform discharges, which occur more frequently during sleep than during wakefulness

♀ • interictal epileptiform discharges frequently occur in runs of 1-3 Hz, but none meet criteria for seizures due to the short duration of discharges of less than 10 seconds

abnormal kindling response ( J:216850 )

• Background Sensitivity: mice exhibit faster sensitization to pentylenetetrazol (PTZ) kindling than controls on the C57BL/6J background but not on a 129S1/SvImJ background

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
developmental and epileptic encephalopathy 17		DOID:0080450	OMIM:615473	J:216850