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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Slc17a8tm1Edw
targeted mutation 1, Robert H Edwards
MGI:3777601
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Slc17a8tm1Edw/Slc17a8tm1Edw involves: 129P2/OlaHsd * C57BL/6 MGI:3777618
ht2
 		Slc17a8tm1Edw/Slc17a8+ involves: 129P2/OlaHsd * C57BL/6 MGI:3777619


Genotype
MGI:3777618
hm1
Allelic
Composition		 Slc17a8tm1Edw/Slc17a8tm1Edw
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc17a8tm1Edw mutation (1 available); any Slc17a8 mutation (41 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
nonconvulsive seizures ( J:132704 )
• mice exhibit intermittent spontaneous cortical seizures lasting up to 2 minutes
• however, mice do not display any behavioral abnormalities
abnormal inner hair cell synaptic ribbon morphology ( J:132704 )
• 26 of 31 inner cell synapses exhibit abnormally thin, elongated ribbons
cochlear ganglion degeneration ( J:132704 )
• mice exhibit progressive neuron loss at all levels of the cochlea that is apparent by P10
abnormal brain wave pattern ( J:132704 )
• mice exhibit frequent interictal spike discharges
decreased synaptic glutamate release ( J:132704 )
• mice do not exhibit no synaptic response in the inner hair cell afferent terminals even when depolarized by elevated potassium

hearing/vestibular/ear
abnormal inner hair cell synaptic ribbon morphology ( J:132704 )
• 26 of 31 inner cell synapses exhibit abnormally thin, elongated ribbons

behavior/neurological
absent startle reflex ( J:132704 )
• mice do not startle to a loud clap
• however, motor and vestibular functions are normal
nonconvulsive seizures ( J:132704 )
• mice exhibit intermittent spontaneous cortical seizures lasting up to 2 minutes
• however, mice do not display any behavioral abnormalities




Genotype
MGI:3777619
ht2
Allelic
Composition		 Slc17a8tm1Edw/Slc17a8+
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc17a8tm1Edw mutation (1 available); any Slc17a8 mutation (41 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
abnormal brain wave pattern ( J:132704 )
• mice exhibit interictal epileptiform abnormalities but no detectable electrographic seizure




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory