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Phenotypes Associated with This Genotype
Genotype
MGI:5806601
Allelic
Composition
Slc20a2tm1a(EUCOMM)Wtsi/Slc20a2tm1a(EUCOMM)Wtsi
Genetic
Background
C57BL/6NTac-Slc20a2tm1a(EUCOMM)Wtsi/Ieg
Cell Lines EPD0243_1_C06
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc20a2tm1a(EUCOMM)Wtsi mutation (2 available); any Slc20a2 mutation (92 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 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
• homozygotes display a few calcifications in the basal ganglia
• 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
• homozygotes display a few calcifications in the cortex
• 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
• 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
• 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
• 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
• 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


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
02/23/2021
MGI 6.16
The Jackson Laboratory