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Phenotypes Associated with This Genotype
Genotype
MGI:3712362
Allelic
Composition
Duox2thyd/Duox2thyd
Genetic
Background
B6(129)-Duox2thyd/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Duox2thyd mutation (1 available); any Duox2 mutation (73 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• although the posterior and intermediate lobes of the pituitary appear normal, the anterior pituitary gland is dysplastic and has many large abnormal cells, some with multiple nuclei
• thyroid gland is highly dysplastic with few normal follicles and highly proliferating epithelial cells, which give rise to bilateral thyroid adenomas

growth/size/body
• proportionally smaller than siblings
• adults weigh approximately half that of littermate controls

hearing/vestibular/ear
• at postnatal day 7 the epithelial cells that will form the inner sulcus of the organ of Corti are in a less-developed columnar form and still attached to a thickened tectorial membrane
• at postnatal day 14 the organ of Corti resembles that of the postnatal day 7 control, but by 8 weeks of age development of the organ of Corti has progressed to appear nearly normal but with a variably thickened tectorial membrane
• ABR thresholds are on average 50-60 dB above those of heterozygous controls for all auditory test stimuli

homeostasis/metabolism
• at 8 weeks of age the average serum insulin-like growth factor level is 14.2 ng/ml versus 261 ng/ml in controls
• at 8 weeks of age TSH levels are 100 to 1000 fold higher than in sex-matched heterozygotes
• at 8 weeks of age serum T4 levels are 10-fold lower than in heterzygous controls in both males and females

nervous system
• although the posterior and intermediate lobes of the pituitary appear normal, the anterior pituitary gland is dysplastic and has many large abnormal cells, some with multiple nuclei

reproductive system
• homozygotes do not breed

skeleton
N
• the growth plates appear normal
• DEXA analysis at 8 weeks of age reveals that total body bone mineral density is significantly reduced with no sex difference
• at 8 weeks of age, areal bone mineral density is significantly reduced with no sex difference
• the whole skeleton appears under-mineralized with thin bones and narrow cortex

adipose tissue
• DEXA analysis at 8 weeks of age shows decreased body fat relative to controls

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital hypothyroidism DOID:0050328 OMIM:PS275200
J:121821


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