Phenotypes associated with this allele

• Allele Symbol: Gria2^tm1Rsp
• Allele Name: targeted mutation 1, Rolf Sprengel
• Allele ID: MGI:2178120
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Gria2^tm1Rsp/Gria2^+	involves: 129S1/Sv * 129X1/SvJ	MGI:3612186

Genotype
MGI:3612186

ht1

• Allelic Composition: Gria2^tm1Rsp/Gria2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

postnatal lethality, complete penetrance ( J:30145 )

• all die by P20

nervous system

seizures ( J:30145 )

• develop spontaneous and recurrent seizures beginning at P13, characterized by rearing on hindlimbs and concomitant forelimb tremor

• generalized seizures occur 2-3 times during observation periods, alternate with jumping and running fits over periods of 2-3 hours and persist for about 2 days

tonic-clonic seizures ( J:30145 )

• also exhibit spontaneous tonic-clonic seizures followed by drowsiness and altered states of consciousness

hippocampal neuron degeneration ( J:30145 )

• exhibit selective neuronal degeneration in the lateral region of the hippocampal CA3 field, with about 50% of neurons showing shrunken nuclei and acidophilic cytoplasmic staining

abnormal AMPA-mediated synaptic currents ( J:30145 )

• calcium permeability of AMPA receptors in hippocampal pyramidal neurons of the CA1 subfield, cerebellar Purkinje cells, and neocortical pyramidal cells is increased by a factor of 5.2 to 7.3

behavior/neurological

abnormal emotion/affect behavior ( J:30145 )

• from P16-P20, develop progressively agitated states

abnormal grooming behavior ( J:30145 )

• from P16-P20, develop progressively agitated states with chewing-grooming automatisms

jumpy ( J:30145 )

• from P16-P20, develop progressively agitated states with excessive jumping fits

increased locomotor activity ( J:30145 )

• from P16-P20, develop progressively agitated states with excessive running fits

paraparesis ( J:30145 )

• from P16-P20, develop weakness of the hindlimbs

seizures ( J:30145 )

• develop spontaneous and recurrent seizures beginning at P13, characterized by rearing on hindlimbs and concomitant forelimb tremor

• generalized seizures occur 2-3 times during observation periods, alternate with jumping and running fits over periods of 2-3 hours and persist for about 2 days

tonic-clonic seizures ( J:30145 )

• also exhibit spontaneous tonic-clonic seizures followed by drowsiness and altered states of consciousness

growth/size/body

postnatal growth retardation ( J:30145 )

cellular

abnormal cell physiology ( J:30145 )

• during the first two weeks of life, heterozygotes appear healthy except for an incipient hypotrophy