Symbol
Name
ID

Slc34a1
solute carrier family 34 (sodium phosphate), member 1
MGI:1345284

Phenotype annotations related to skeleton

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Frontal bossing

Flat occiput

Widely patent fontanelles and sutures

Bowing of the legs

Femoral bowing

Fibular bowing

Tibial bowing

Metaphyseal irregularity

Enlargement of the ankles

Enlargement of the wrists

Hypophosphatemic rickets

Bone pain

Increased susceptibility to fractures

Recurrent fractures

Delayed epiphyseal ossification

Bulging epiphyses

Bulging of the costochondral junction

Enlargement of the costochondral junction

Deformed rib cage

Osteomalacia

Osteopenia

Osteoporosis

Rickets

Thin bony cortex

Sparse bone trabeculae

Disease(s) Associated with SLC34A1

Fanconi renotubular syndrome 2

Fanconi syndrome

hereditary hypophosphatemic rickets with hypercalciuria

hypophosphatemic nephrolithiasis/osteoporosis 1

Mouse Phenotypes		skeleton phenotype	abnormal trabecular bone morphology	abnormal skeleton development	delayed bone ossification
Availability	Mouse Genotype
	Slc34a1^tm1Hten/Slc34a1^tm1Hten	*

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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