Phenotypes Associated with This Genotype

Genotype
MGI:6256838

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

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

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