Phenotypes Associated with This Genotype

Genotype
MGI:3052075

• Allelic Composition: Slc29a1^tm1Msg/Slc29a1^tm1Msg
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

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

behavior/neurological

alcohol preference ( J:92100 )

increased alcohol consumption ( J:92100 )

• voluntarily consume more ethanol compared to wild-type littermates

• increase in consumption is not related to a change in taste preference as no difference in preference for saccharin or quinine is seen

• administration of an A1 receptor agonist reduces alcohol consumption and preference in mutant but not wild-type mice

impaired behavioral response to alcohol ( J:92100 )

• the severity of ethanol-induced motor incoordination and loss of righting reflex is reduced compared to wild-type controls

• however, blood ethanol concentrations do not differ from wild-type

nervous system

abnormal excitatory postsynaptic currents ( J:92100 )

• incubation of brain slices with an A1 receptor antagonist (1,3-dipropyl-8-cyclopentylxanthine) fails to increase evoked EPSC amplitude unlike in wild-type littermate brain slices

abnormal miniature excitatory postsynaptic currents ( J:92100 )

• the frequency of spontaneous EPSCs in the striatum is increased 2.5-fold compared to wild-type littermates

• the increase in frequncy is associated with a slight but significant increase in amplitude

growth/size/body

decreased body weight ( J:92100 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
alcohol dependence		DOID:0050741	OMIM:103780	J:92100