Phenotypes associated with this allele

• Allele Symbol: Gnao1^tm2.1Rneu
• Allele Name: targeted mutation 2.1, Richard R Neubig
• Allele ID: MGI:5620501
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gnao1^tm2.1Rneu/Gnao1^tm2.1Rneu	B6.129S-Gnao1^tm2.1Rneu	MGI:5620502
ht2	Gnao1^tm2.1Rneu/Gnao1^+	129S-Gnao1^tm2.1Rneu	MGI:5620504
ht3	Gnao1^tm2.1Rneu/Gnao1^+	B6.129S-Gnao1^tm2.1Rneu	MGI:5620503
ht4	Gnao1^tm2.1Rneu/Gnao1^+	(C57BL/6J x 129S1/SvImJ)F1	MGI:5620505

Genotype
MGI:5620502

hm1

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

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

mortality/aging

lethality, incomplete penetrance ( J:216850 )

• very few viable homozygotes are seen

Genotype
MGI:5620504

ht2

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

mortality/aging

mortality/aging ( J:216850 )

N • Background Sensitivity: 100% of mice on the 129S1/SvImJ background survive more than 1 year compared to premature lethality on a C57BL/6J background

behavior/neurological

behavior/neurological phenotype ( J:216850 )

♀N • Background Sensitivity: female mice show no difference in susceptibility to pentylenetetrazol (PTZ) kindling compared to faster sensitization on a C57BL/6J background

Genotype
MGI:5620503

ht3

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

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

Genotype
MGI:5620505

ht4

• Allelic Composition: Gnao1^tm2.1Rneu/Gnao1⁺
• Genetic Background: (C57BL/6J x 129S1/SvImJ)F1

mortality/aging

mortality/aging ( J:216850 )

N • Background Sensitivity: no deaths are seen up to 47 weeks of age compared to premature lethality on a congenic C57BL/6J background

behavior/neurological

behavior/neurological phenotype ( J:216850 )

♀N • Background Sensitivity: female mice show no difference in susceptibility to pentylenetetrazol (PTZ) kindling compared to faster sensitization on a congenic C57BL/6J background