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Phenotypes Associated with This Genotype
Genotype
MGI:6256838
Allelic
Composition
Slc29a1tm1Msg/Slc29a1tm1Msg
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc29a1tm1Msg mutation (1 available); any Slc29a1 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• 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
• sternocostal articulations show calcification at 6 months
• 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
• 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
• 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
• 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


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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last database update
01/14/2020
MGI 6.14
The Jackson Laboratory