Phenotypes Associated with This Genotype

Genotype
MGI:2655154

• Allelic Composition: Tbx19^tm1Jdr/Tbx19^tm1Jdr
• Genetic Background: either: (involves: 129/Sv) or (involves: BALB/c)

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

endocrine/exocrine glands

adrenal gland hypoplasia ( J:82562 )

• mutant adrenal glands are hypoplastic ad display a severe loss at the level of the glucocorticoid-producing fasciculata layer

decreased corticotroph cell number ( J:82562 )

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

homeostasis/metabolism

hypoglycemia ( J:82562 )

• 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

increased circulating glucose level ( J:82562 )

• homozygotes exhibit significantly higher basal plasma glucose levels relative to wild-type or heterozygous control mice

decreased circulating corticosterone level ( J:82562 )

• unlike wild-type and heterozygous control mice, homozygotes exhibit no detectable plasma corticosterone levels

decreased circulating adrenocorticotropin level ( J:82562 )

• homozygotes display very low, though still detectable, plasma ACTH levels, relative to wild-type and heterozygous control mice

nervous system

decreased corticotroph cell number ( J:82562 )

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

pigmentation

abnormal ventral coat pigmentation ( J:82562 )

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

hypopigmentation ( J:82562 )

• homozygotes display deficient pigmentation

reproductive system

reproductive system phenotype ( J:82562 )

N • homozygotes are fertile, indicating a functional pituitary gonadal axis

integument

abnormal ventral coat pigmentation ( J:82562 )

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

growth/size/body

abnormal body water content ( J:82562 )

• homozygotes display increased water retention in their fur

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
adrenocorticotropic hormone deficiency		DOID:0080150	OMIM:201400	J:82561