Phenotypes associated with this allele

• Allele Symbol: Slc20a2^{tm1a(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4431725
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc20a2^tm1a(EUCOMM)Wtsi/Slc20a2^tm1a(EUCOMM)Wtsi	C57BL/6N-Slc20a2^tm1a(EUCOMM)Wtsi/Wtsi	MGI:5608406
hm2	Slc20a2^tm1a(EUCOMM)Wtsi/Slc20a2^tm1a(EUCOMM)Wtsi	C57BL/6NTac-Slc20a2^tm1a(EUCOMM)Wtsi/Ieg	MGI:5806601
ht3	Slc20a2^tm1a(EUCOMM)Wtsi/Slc20a2^+	C57BL/6N-Slc20a2^tm1a(EUCOMM)Wtsi/Wtsi	MGI:5706091

Genotype
MGI:5608406

hm1

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

Data Sources

IMPC Data for Slc20a2

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

behavior/neurological

absent pinna reflex ( J:211773 )

♀

IMPC - WTSI

cardiovascular system

abnormal liver vasculature morphology ( J:239583 )

DMDD

abnormal vena cava morphology ( J:239583 )

DMDD

arteriovenous malformation ( J:239583 )

DMDD

abnormal atrioventricular cushion morphology ( J:239583 )

DMDD

anomalous pulmonary venous connection ( J:239583 )

DMDD

craniofacial

abnormal incisor color ( J:211773 )

♀

IMPC - WTSI

embryo

embryo cyst ( J:239583 )

DMDD

endocrine/exocrine glands

multiple persisting craniopharyngeal ducts ( J:239583 )

DMDD

growth/size/body

abnormal incisor color ( J:211773 )

♀

IMPC - WTSI

embryo cyst ( J:239583 )

DMDD

decreased body length ( J:211773 )

IMPC - WTSI

hearing/vestibular/ear

abnormal auditory brainstem response ( J:211773 )

IMPC - WTSI

homeostasis/metabolism

increased circulating magnesium level ( J:211773 )

IMPC - WTSI

increased circulating alkaline phosphatase level ( J:211773 )

♀

IMPC - WTSI

subcutaneous edema ( J:239583 )

DMDD

integument

subcutaneous edema ( J:239583 )

DMDD

liver/biliary system

abnormal liver vasculature morphology ( J:239583 )

DMDD

neoplasm

increased hemangioma incidence ( J:239583 )

DMDD

embryo tumor ( J:239583 )

DMDD

nervous system

small superior cervical ganglion ( J:239583 )

DMDD

abnormal forebrain morphology ( J:239583 )

DMDD

multiple persisting craniopharyngeal ducts ( J:239583 )

DMDD

abnormal hypoglossal nerve topology ( J:239583 )

DMDD

skeleton

abnormal incisor color ( J:211773 )

♀

IMPC - WTSI

abnormal spine curvature ( J:211773 )

♂

IMPC - WTSI

kyphosis ( J:211773 )

♂

IMPC - WTSI

fusion of vertebral arches ( J:239583 )

DMDD

decreased bone mineral content ( J:211773 )

IMPC - WTSI

decreased bone mineral density ( J:211773 )

♀

IMPC - WTSI

ectopic cartilage ( J:239583 )

DMDD

vision/eye

abnormal iris morphology ( J:211773 )

♀

IMPC - WTSI

irregularly shaped pupil ( J:211773 )

IMPC - WTSI

abnormal lens morphology ( J:211773 )

IMPC - WTSI

cataract ( J:211773 )

IMPC - WTSI

narrow eye opening ( J:211773 )

IMPC - WTSI

eyelids fail to open ( J:211773 )

♂

IMPC - WTSI

Genotype
MGI:5806601

hm2

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

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

Genotype
MGI:5706091

ht3

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

Data Sources

IMPC Data for Slc20a2

behavior/neurological

increased grip strength ( J:211773 )

♂

IMPC - WTSI