Mouse Genome Informatics
hm
    Foxe1tm1Rdl/Foxe1tm1Rdl
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• mice died within 48 hours of birth

endocrine/exocrine glands
• at E9.5, the thyroid primordium remains contiguous with the pharyngeal endoderm and does not begin to migrate downward
• at E11.5, half the thyroid cell precursors remain in the position of the primordium and the other half are undetectable
• at E15.5, these unmigrated cells differentiate into a small, ectopic thymus located sublingually
• thyroid gland absent from the normal location

craniofacial
• severe
• palatal shelves are unable to fuse; coronal sections through the palatal region of newborn mutant mice shows that the palatal shelves do not meet at the midline

homeostasis/metabolism
• compensatory elevation of thyroid-stimulating hormone present, indicating normal pituitary response
• absence of thyroid hormones in the blood

digestive/alimentary system
• severe
• palatal shelves are unable to fuse; coronal sections through the palatal region of newborn mutant mice shows that the palatal shelves do not meet at the midline

integument
• on grafted skin, the hair coat appears sparse and thin
• on grafted skin, the hair coat appears kinky
• on grafted skin, hairs are kinky, curly, thin and have abnormal septation between cells
• 50% reduction in hair with 3-5 cell layers, increase in single cell layers
• on grafted skin, hairs have a distinct C- or S-shaped curvature
• on grafted skin, hair follicles are misaligned and smaller than controls
• differentiation and proliferation of grafted skin is normal

growth/size
• severe
• palatal shelves are unable to fuse; coronal sections through the palatal region of newborn mutant mice shows that the palatal shelves do not meet at the midline

Mouse Models of Human Disease
OMIM IDRef(s)
Hypothyroidism, Athyroidal, with Spiky Hair and Cleft Palate 241850 J:48970 , J:93410
Hypothyroidism, Congenital, Nongoitrous, 2; CHNG2 218700 J:48970