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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Eps8tm1Ppdf
targeted mutation 1, Pier Paolo Di Fiore
MGI:3693626
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Eps8tm1Ppdf/Eps8tm1Ppdf B6.129P2-Eps8tm1Ppdf MGI:3695435
hm2
 		Eps8tm1Ppdf/Eps8tm1Ppdf involves: 129P2/OlaHsd MGI:3695434
hm3
 		Eps8tm1Ppdf/Eps8tm1Ppdf involves: 129P2/OlaHsd * C57BL/6J MGI:5544330
cx4
 		Eps8tm1Ppdf/Eps8tm1Ppdf
Eps8l2tm1Wma/Eps8l2tm1Wma 		involves: 129P2/OlaHsd * C57BL/6J MGI:5544329


Genotype
MGI:3695435
hm1
Allelic
Composition		 Eps8tm1Ppdf/Eps8tm1Ppdf
Genetic
Background		 B6.129P2-Eps8tm1Ppdf
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eps8tm1Ppdf mutation (0 available); any Eps8 mutation (123 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
alcohol preference ( J:116055 )
• mice show a preference for ethanol over water
increased alcohol consumption ( J:116055 )
• mutants show increased ethanol consumption compared to wild-type
abnormal motor capabilities/coordination/movement ( J:116055 )
• mice exposed to increasing ethanol concentrations remain on rotating rod significantly longer than controls
improved righting response ( J:116055 )
• after ethanol administration, righting reflex recovers significantly faster than in wild-type

nervous system
abnormal excitatory postsynaptic currents ( J:116055 )
• NMDA component of excitatory post synaptic currents is 2-fold higher compared to controls
• 400 mM ethanol reduces NMDA current in wild-type neurons (from 41% to 92% in presence of 100mM and 400 mM ethanol, respectively), but in mutants reduction remains ~40% at both concentrations
enhanced NMDA-mediated synaptic currents ( J:116055 )
• NMDA component of excitatory post synaptic currents is 2-fold higher compared to controls

cellular
abnormal cell physiology ( J:116055 )
• ethanol does not induce actin remodeling in mutants as it does in controls




Genotype
MGI:3695434
hm2
Allelic
Composition		 Eps8tm1Ppdf/Eps8tm1Ppdf
Genetic
Background		 involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eps8tm1Ppdf mutation (0 available); any Eps8 mutation (123 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:116237 )
• mice display no obvious abnormal phenotype




Genotype
MGI:5544330
hm3
Allelic
Composition		 Eps8tm1Ppdf/Eps8tm1Ppdf
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eps8tm1Ppdf mutation (0 available); any Eps8 mutation (123 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
hearing/vestibular/ear

nervous system




Genotype
MGI:5544329
cx4
Allelic
Composition		 Eps8tm1Ppdf/Eps8tm1Ppdf
Eps8l2tm1Wma/Eps8l2tm1Wma
Genetic
Background		 involves: 129P2/OlaHsd * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eps8l2tm1Wma mutation (0 available); any Eps8l2 mutation (37 available)
Eps8tm1Ppdf mutation (0 available); any Eps8 mutation (123 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Disorganized stereocilia in Eps8l2tm1Wma/Eps8l2tm1Wma Eps8tm1Ppdf/Eps8tm1Ppdf mice

hearing/vestibular/ear
abnormal cochlear hair cell stereociliary bundle morphology ( J:200669 )
• hair bundle abnormalities are strongly enhanced compared to single mutants
• profoundly disorganized

nervous system
abnormal cochlear hair cell stereociliary bundle morphology ( J:200669 )
• hair bundle abnormalities are strongly enhanced compared to single mutants
• profoundly disorganized




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
04/30/2024
MGI 6.23 		The Jackson Laboratory