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
hypoglycemia
(
J:82561
)
|
• 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
|
|
• homozygotes display increased water retention in their fur
|
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
|
Mouse Models of Human Disease |
OMIM ID | Ref(s) | |
| Acth Deficiency, Isolated; IAD | 201400 | J:82561 | |
