Mouse Genome Informatics
hm
    Tbx19tm1Jdr/Tbx19tm1Jdr
either: (involves: 129/Sv) or (involves: BALB/c)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
endocrine/exocrine glands
• mutant adrenal glands are hypoplastic ad display a severe loss at the level of the glucocorticoid-producing fasciculata layer
• homozygotes exhibit only a few remaining POMC (ACTH)-positive pituitary cells relative to wild-type and heterozygous control mice

homeostasis/metabolism
• after a 24-hr fast, homozygotes display a significantly greater fasting-induced hypoglycemia than wild-type and heterozygous control mice
• fasting-induced hypoglycemia can be associated with seizures or death during fasting
• homozygotes exhibit significantly higher basal plasma glucose levels relative to wild-type or heterozygous control mice
• unlike wild-type and heterozygous control mice, homozygotes exhibit no detectable plasma corticosterone levels
• homozygotes display very low, though still detectable, plasma ACTH levels, relative to wild-type and heterozygous control mice

nervous system
• homozygotes exhibit only a few remaining POMC (ACTH)-positive pituitary cells relative to wild-type and heterozygous control mice

pigmentation
• homozygotes show a yellow ventrum pigmentation instead of the light gray pigmentation observed in wild-type or heterozygous control mice
• homozygotes display deficient pigmentation

reproductive system
N
• homozygotes are fertile, indicating a functional pituitary gonadal axis (J:82651)

integument
• homozygotes show a yellow ventrum pigmentation instead of the light gray pigmentation observed in wild-type or heterozygous control mice

growth/size/body
• homozygotes display increased water retention in their fur

Mouse Models of Human Disease
OMIM IDRef(s)
Acth Deficiency, Isolated; IAD 201400 J:82561