Phenotypes Associated with This Genotype

Genotype
MGI:5806601

• Allelic Composition: Slc20a2^{tm1a(EUCOMM)Wtsi}/Slc20a2^{tm1a(EUCOMM)Wtsi}
• Genetic Background: C57BL/6NTac-Slc20a2^{tm1a(EUCOMM)Wtsi}/Ieg
• Cell Lines: EPD0243_1_C06

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

nervous system

microgliosis ( J:223197 )

• F4/80-positive microglia are found around individual elements of the calcified aggregates observed in brain

• however, no additional focal increase in microglia is observed

abnormal basal ganglion morphology ( J:223197 )

• homozygotes display a few calcifications in the basal ganglia

abnormal thalamus morphology ( J:223197 )

• homozygotes display extensive, bilateral abnormal aggregates of calcified spheres in the thalamus

• calcified spheres are ~10 um in diameter while the size of aggregates is ~50-100 um

abnormal cerebral cortex morphology ( J:223197 )

• homozygotes display a few calcifications in the cortex

calcified brain ( J:223197 )

• at 19 weeks of age, both sexes exhibit similar patterns of calcifications in the thalamus, basal ganglia, and brain cortex, unlike wild-type controls

• brain calcifications are found in close proximity to blood vessels, as shown by PAS staining

• however, no calcifications are detected in the cerebellum

immune system

microgliosis ( J:223197 )

• F4/80-positive microglia are found around individual elements of the calcified aggregates observed in brain

• however, no additional focal increase in microglia is observed

homeostasis/metabolism

abnormal mineral level ( J:234034 )

• at 3 weeks of age, the average inorganic phosphate concentration [Pi] in cerebrospinal fluid (CSF) is 2.4-fold higher than that in wild-type controls (2.19 mM versus 0.90 mM, respectively)

• consequently, the average CSF [Pi]/serum [Pi] ratio is 0.57 relative to 0.19 in wild-type controls

decreased circulating phosphate level ( J:234034 )

• at 3 weeks of age, the average serum [Pi] is 0.84-fold lower than that in wild-type controls (4.01 mM versus 4.79 mM, respectively)

hematopoietic system

microgliosis ( J:223197 )

• F4/80-positive microglia are found around individual elements of the calcified aggregates observed in brain

• however, no additional focal increase in microglia is observed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
basal ganglia calcification		DOID:0060230	OMIM:114100 OMIM:213600 OMIM:615007 OMIM:615483	J:223197