Phenotypes associated with this allele

• Allele Symbol: Gng3^tm1.1Rbs
• Allele Name: targeted mutation 1.1, Janet D Robishaw
• Allele ID: MGI:3055576
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gng3^tm1.1Rbs/Gng3^tm1.1Rbs	involves: C57BL/6J * FVB/N	MGI:3055580
hm2	Gng3^tm1.1Rbs/Gng3^tm1.1Rbs	involves: FVB/N	MGI:3055579
cx3	Gng3^tm1.1Rbs/Gng3^tm1.1Rbs Gng7^tm1Lex/Gng7^tm1Lex	B6.Cg-Gng7^tm1Lex Gng3^tm1.1Rbs	MGI:5317909

Genotype
MGI:3055580

hm1

• Allelic Composition: Gng3^tm1.1Rbs/Gng3^tm1.1Rbs
• Genetic Background: involves: C57BL/6J * FVB/N

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

mortality/aging

premature death ( J:92791 )

• 10% of homozygotes die as a result of audiogenic seizures

adipose tissue

decreased inguinal fat pad weight ( J:92791 )

• female but not male homozygotes have significantly smaller inguinal fat pads

decreased retroperitoneal fat pad weight ( J:92791 )

• female but not male homozygotes have significantly smaller retroperitoneal fat pads

behavior/neurological

audiogenic seizures ( J:92791 )

• seizures of varying intensity, from mild (90%) to severe (15%) are seen regardless of the background

• handling-induced seizures are not seen in mutants out-crossed to C57BL/6J

growth/size/body

slow postnatal weight gain ( J:92791 )

• after weaning, homozygotes, especially females, gain weight more slowly compared to wild-type littermates

homeostasis/metabolism

decreased circulating leptin level ( J:92791 )

• female but not male homozygotes have significantly lower circulating leptin levels

nervous system

audiogenic seizures ( J:92791 )

• seizures of varying intensity, from mild (90%) to severe (15%) are seen regardless of the background

• handling-induced seizures are not seen in mutants out-crossed to C57BL/6J

Genotype
MGI:3055579

hm2

• Allelic Composition: Gng3^tm1.1Rbs/Gng3^tm1.1Rbs
• Genetic Background: involves: FVB/N

mortality/aging

premature death ( J:92791 )

• 40% of homozygotes die between 2 months and 1 year compared to 10% of wild-type littermates

• 10% of homozygotes die as a result of audiogenic seizures

adipose tissue

decreased inguinal fat pad weight ( J:92791 )

• female but not male homozygotes have significantly smaller inguinal fat pads

decreased retroperitoneal fat pad weight ( J:92791 )

• female but not male homozygotes have significantly smaller retroperitoneal fat pads

behavior/neurological

convulsive seizures ( J:92791 )

• starting at 2 months of age 24% of homozygotes have handling-induced seizures that are characterized by vocalizations, excessive salivation, wild running, jumping, tonic-clonic convulsions, and tonic hindlimb extension

• Background Sensitivity: handling-induced seizures are not seen in mutants out-crossed to C57BL/6J

audiogenic seizures ( J:92791 )

• seizures of varying intensity, from mild (90%) to severe (15%) are seen regardless of the background

growth/size/body

slow postnatal weight gain ( J:92791 )

• after weaning, homozygotes, especially females, gain weight more slowly compared to wild-type littermates

homeostasis/metabolism

decreased circulating leptin level ( J:92791 )

• female but not male homozygotes have significantly lower circulating leptin levels

nervous system

convulsive seizures ( J:92791 )

• starting at 2 months of age 24% of homozygotes have handling-induced seizures that are characterized by vocalizations, excessive salivation, wild running, jumping, tonic-clonic convulsions, and tonic hindlimb extension

• Background Sensitivity: handling-induced seizures are not seen in mutants out-crossed to C57BL/6J

audiogenic seizures ( J:92791 )

• seizures of varying intensity, from mild (90%) to severe (15%) are seen regardless of the background

Genotype
MGI:5317909

cx3

• 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