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Phenotypes Associated with This Genotype
Genotype
MGI:4429560
Allelic
Composition
Slc26a7tm1Sole/Slc26a7tm1Sole
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Slc26a7tm1Sole mutation (0 available); any Slc26a7 mutation (50 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• arterial pH is significantly reduced
• serum bicarbonate is significantly reduced
• acid loading by adding ammonium chloride to drinking water leads to a further drop on serum bicarbonate
• elevation of serum TSH after P14
• 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
• low serum T4 levels at P14

endocrine/exocrine glands
• thyroid shows enlarged follicles with excess colloid lined by normal or tall follicular epithelium
• goiter is evident from P14 onwards, with 1.7-fold increase in thyroid weight at P14 and 21.5-fold increase at P90
• 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

digestive/alimentary system
• 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


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
06/12/2024
MGI 6.13
The Jackson Laboratory