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Phenotypes Associated with This Genotype
Genotype
MGI:3698432
Allelic
Composition
TpoR479C/TpoR479C
Genetic
Background
involves: ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
TpoR479C mutation (2 available); any Tpo mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mean lifespan is ~ 3 months

growth/size/body
• adult mice show a prominent forehead
• 15 days after birth, mice are smaller (6.46 g) than normal littermates (8.95 g); at 30 days of age, mutants are extremely small (6.54 g) compared to littermates (20.96 g)
• much less than normal littermates at 15 and 30 days after birth; body weights increase significantly if mice receive thyroid powder-supplemented diet at 30 days of age
• adult mice are characterized by their short trunk

craniofacial
• adult mice show a prominent forehead

vision/eye
• adult mice show prominent eyes

endocrine/exocrine glands
• follicles show diminished and disordered colloids
• cells display hyperproliferation and hypertrophy
• glands are enlarged due to a diffuse goiter and hypertrophy (in mutants, glands are ~45 mg vs 15 mg in wild-type)

hematopoietic system
• significantly lower than normal
• significantly lower than normal
• at 3 months, spleens are considerably smaller than normal mice

homeostasis/metabolism
• levels are 20 times the levels in wild-type
• thyroid peroxidase activity is undetectable in thyroid microsomal fractions

immune system
• at 3 months, spleens are considerably smaller than normal mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital hypothyroidism DOID:0050328 OMIM:PS275200
J:112930


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
08/04/2020
MGI 6.15
The Jackson Laboratory