Phenotypes associated with this allele

• Allele Symbol: Gnao1^em1Rneu
• Allele Name: endonuclease-mediated mutation 1, Richard R Neubig
• Allele ID: MGI:6295353
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gnao1^em1Rneu/Gnao1^em1Rneu	involves: C57BL/6J * C57BL/6NCrl	MGI:6295356
ht2	Gnao1^em1Rneu/Gnao1^+	involves: C57BL/6J * C57BL/6NCrl	MGI:6295357

Genotype
MGI:6295356

hm1

• Allelic Composition: Gnao1^em1Rneu/Gnao1^em1Rneu
• Genetic Background: involves: C57BL/6J * C57BL/6NCrl

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

mortality/aging

neonatal lethality, complete penetrance ( J:271137 )

• mice die by P1

Genotype
MGI:6295357

ht2

• Allelic Composition: Gnao1^em1Rneu/Gnao1⁺
• Genetic Background: involves: C57BL/6J * C57BL/6NCrl

mortality/aging

premature death ( J:271137 )

• 2 of 33 mice die spontaneously around 5-7 weeks of age

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:271137 )

• a significant number of mice of both sexes fail to run when the belt speed exceeds 22 cm/s

impaired coordination ( J:271137 )

♂ • males exhibit a reduced retention time on the accelerating rotarod, while females are unaffected

♂ • however, mice do not show a difference in learning rate on the rotarod and mice exhibit normal performance in the open field arena

decreased grip strength ( J:271137 )

• both males and females exhibit a decrease in forepaw grip strength

abnormal gait ( J:271137 )

♂ • males exhibit abnormal gait, with males, but not females, showing increased paw angle variability and reduced stride length

short stride length ( J:271137 )

♂ • seen in males but not females

increased kindling response ( J:271137 )

♂ • males show increased sensitivity to pentylenetetrazole (PTZ) kindling

♂ • however, no spontaneous seizures are seen

nervous system

increased kindling response ( J:271137 )

♂ • males show increased sensitivity to pentylenetetrazole (PTZ) kindling

♂ • however, no spontaneous seizures are seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
developmental and epileptic encephalopathy 17		DOID:0080450	OMIM:615473	J:271137