Phenotypes Associated with This Genotype

Genotype
MGI:5608406

• 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