Phenotypes associated with this allele

• Allele Symbol: Gng7^tm1Lex
• Allele Name: targeted mutation 1, Lexicon Genetics
• Allele ID: MGI:3604392
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gng7^tm1Lex/Gng7^tm1Lex	involves: 129S5/SvEvBrd * C57BL/6J	MGI:3609962
cx2	Gng3^tm1.1Rbs/Gng3^tm1.1Rbs Gng7^tm1Lex/Gng7^tm1Lex	B6.Cg-Gng7^tm1Lex Gng3^tm1.1Rbs	MGI:5317909

Genotype
MGI:3609962

hm1

• Allelic Composition: Gng7^tm1Lex/Gng7^tm1Lex
• Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

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

behavior/neurological

increased startle reflex ( J:81988 )

• startle reflex is increased but prepulse inhibition is normal

nervous system

abnormal nervous system physiology ( J:81988 )

• the stimulatory effect of dopamine on adenylyl cyclase activity in the striatum is lost

homeostasis/metabolism

increased circulating insulin level ( J:103485 )

• males exhibit an increased mean insulin level

Genotype
MGI:5317909

cx2

• Allelic Composition: Gng3^tm1.1Rbs/Gng3^tm1.1Rbs; Gng7^tm1Lex/Gng7^tm1Lex
• Genetic Background: B6.Cg-Gng7^tm1Lex Gng3^tm1.1Rbs

mortality/aging

premature death ( J:182775 )

• 51 of 52 mutants die before 1 year of age, with a median survival of 75 days

• administration of a ketogenic diet prolongs life span of mutants; females on the ketogenic diet have a median survival of 334 days while males have a median survival of 154 days

behavior/neurological

seizures ( J:182775 )

• 19 of 21 mutants experience seizures for about 1 minute immediately prior to death

environmentally induced seizures ( J:182775 )

• 32% of mutants exhibit handling-induced seizures at a median of 18 days before death

tonic-clonic seizures ( J:182775 )

• seizures are characterized by a progression from wild running to tonic-clonic convulsion to tonic hindlimb extension that ends in death

nervous system

seizures ( J:182775 )

• 19 of 21 mutants experience seizures for about 1 minute immediately prior to death

environmentally induced seizures ( J:182775 )

• 32% of mutants exhibit handling-induced seizures at a median of 18 days before death

tonic-clonic seizures ( J:182775 )

• seizures are characterized by a progression from wild running to tonic-clonic convulsion to tonic hindlimb extension that ends in death

abnormal brain wave pattern ( J:182775 )

• mutants exhibit several EEG abnormalities including more interictal discharges and lower interhemispheric coherence compared to wild-type mice

• baclofen, a GABABR-specific agonist, shows impaired ability to induce delta waves on EEG tracings in mutants

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
epilepsy		DOID:1826		J:182775