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

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