Phenotypes associated with this allele

• Allele Symbol: Slc29a1^tm1Msg
• Allele Name: targeted mutation 1, Robert O Messing
• Allele ID: MGI:3052066
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc29a1^tm1Msg/Slc29a1^tm1Msg	involves: 129X1/SvJ	MGI:6151075
hm2	Slc29a1^tm1Msg/Slc29a1^tm1Msg	involves: 129X1/SvJ * C57BL/6	MGI:6256838
hm3	Slc29a1^tm1Msg/Slc29a1^tm1Msg	involves: 129X1/SvJ * C57BL/6J	MGI:3052075

Genotype
MGI:6151075

hm1

• Allelic Composition: Slc29a1^tm1Msg/Slc29a1^tm1Msg
• Genetic Background: involves: 129X1/SvJ

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

hematopoietic system

abnormal erythrocyte physiology ( J:244602 )

• adenosine uptake is almost completely abolished

homeostasis/metabolism

increased susceptibility to injury ( J:203572 )

• mice subjected to acute lung injury exhibit increased albumin leakage compared with wild-type mice

Genotype
MGI:6256838

hm2

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

homeostasis/metabolism

increased alkaline phosphatase activity ( J:235511 )

• annulus fibrosus cells isolated from intervertebral discs and grown in micromass cultures exhibit enhanced alkaline phosphatase activity at 2 and 6 months and enhanced mineralization at 2 months

• location of alkaline phosphatase activity is altered in intervertebral discs

skeleton

abnormal sternocostal joint morphology ( J:235511 )

• sternocostal articulations show calcification at 6 months

abnormal vertebral column morphology ( J:235511 )

• ectopic calcification of spinal tissues, with calcification in the paraspinal tissues of the cervical spine and in the rib entheses of the upper thoracic spine at 2 months and progressing caudally along the spine at 6 months

calcified intervertebral disk ( J:235511 )

• the intervertebral disc shows ectopic calcification at 6 months of age

• thoracic spine shows hypermineralized material within the lateral aspect of the intervertebral disc at 6 months of age

hyperostosis ( J:235511 )

• ectopic calcification of spinal tissues, with calcification in the paraspinal tissues of the cervical spine and in the rib entheses of the upper thoracic spine at 2 months and progressing caudally along the spine at 6 months

• sternocostal articulations and interverterbral discs show ectopic calcification at 6 months

increased bone mineralization ( J:235511 )

• mice exhibit progressive ectopic mineralization of spinal tissues

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
diffuse idiopathic skeletal hyperostosis		DOID:6652	OMIM:106400	J:235511

Genotype
MGI:3052075

hm3

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

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