Phenotypes Associated with This Genotype

Genotype
MGI:4429560

• Allelic Composition: Slc26a7^tm1Sole/Slc26a7^tm1Sole
• Genetic Background: involves: 129

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

homeostasis/metabolism

acidemia ( J:156969 )

• arterial pH is significantly reduced

decreased circulating bicarbonate level ( J:156969 )

• serum bicarbonate is significantly reduced

• acid loading by adding ammonium chloride to drinking water leads to a further drop on serum bicarbonate

increased circulating thyroid-stimulating hormone level ( J:325346 )

• elevation of serum TSH after P14

abnormal thyroid hormone level ( J:325346 )

• mice show decreased intrathyroidal concentrations of both thyroglobulin-bound and free thyroid hormones (T4 and T3) suggesting defective thyroglobulin iodination and thyroid hormone biosynthesis rather than impaired secretion

• reduction of T4 is more severe than of T3

decreased circulating thyroxine level ( J:325346 )

• low serum T4 levels at P14

decreased circulating triiodothyronine level ( J:325346 )

• low T3 levels after P14

renal tubular acidosis ( J:156969 )

increased urine osmolality ( J:156969 )

increased urine pH ( J:156969 )

endocrine/exocrine glands

abnormal thyroid follicle morphology ( J:325346 )

• thyroid shows enlarged follicles with excess colloid lined by normal or tall follicular epithelium

enlarged thyroid gland ( J:325346 )

• goiter is evident from P14 onwards, with 1.7-fold increase in thyroid weight at P14 and 21.5-fold increase at P90

abnormal thyroid gland physiology ( J:325346 )

decreased activity of thyroid gland ( J:325346 )

• mice are hypothyroid

• males supplemented with 30 ug iodide/day show partial reversal of hypothyroidism, with reduced TSH and increased T3 levels, and after 6 weeks of treatment, TSH and T3, but not T4, levels are comparable to controls

renal/urinary system

renal tubular acidosis ( J:156969 )

increased urine osmolality ( J:156969 )

increased urine pH ( J:156969 )

oliguria ( J:156969 )

digestive/alimentary system

abnormal digestive system physiology ( J:156969 )

• gastric acid secretion significantly reduced (46 mEq/g vs 75 mEq/g for controls)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital hypothyroidism		DOID:0050328	OMIM:PS275200	J:325346