Phenotypes Associated with This Genotype

Genotype
MGI:2660736

• Allelic Composition: Pou3f2^tm1Rsd/Pou3f2^tm1Rsd
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:30430 )

• 90% of homozygotes died before P6

• the remaining 10% died between P9 and P10

adipose tissue

decreased brown adipose tissue amount ( J:30430 )

• most homozygotes showed a significant decrease in brown adipose tissue, consistent with severe malnutrition

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:30430 )

N • the adrenal glands and cerebral cortex of homozygous mutant mice appeared normal

abnormal pituitary gland morphology ( J:30430 )

• by E19, homozygotes displayed complete loss of pituicytes and a fold of the intermediate lobe filled the space normally occupied by the posterior lobe

abnormal neurohypophysis morphology ( J:30430 )

• homozygotes displayed loss of the posterior lobe of the pituitary gland; the anterior and intermediate lobes appeared normal

• the developing posterior pituitary gland appeared normal until E16.5, when axonal projections from magnocellular neurons failed to make contact

abnormal pituicyte morphology ( J:30430 )

• complete loss of pituicytes by E19

growth/size/body

decreased body size ( J:30430 )

• homozygotes were born normally but displayed a reduction in size and weight from P3

• by P6, mutants were 50-60% smaller than age-matched wild-type mice

nervous system

nervous system phenotype ( J:30430 )

N • homozygotes showed no abnormalities in the cortex, hippocampal formation, or other structures outside the hypothalamus

abnormal pituitary gland morphology ( J:30430 )

• by E19, homozygotes displayed complete loss of pituicytes and a fold of the intermediate lobe filled the space normally occupied by the posterior lobe

abnormal neurohypophysis morphology ( J:30430 )

• homozygotes displayed loss of the posterior lobe of the pituitary gland; the anterior and intermediate lobes appeared normal

• the developing posterior pituitary gland appeared normal until E16.5, when axonal projections from magnocellular neurons failed to make contact

abnormal pituicyte morphology ( J:30430 )

• complete loss of pituicytes by E19

abnormal hypothalamus morphology ( J:30430 )

• homozygotes displayed loss of endocrine hypothalamic nuclei

• starting at E15-E16, mutants showed a progressive loss of the parvocellular and magnocellular neurons of the paraventricular hypothalamic (PVH) and supraoptic nuclei in a dorsal-ventral pattern, with most cells lost by E17

• by E19.5, mutant neonates showed a striking neuronal loss only in the hypothalamic supraoptic and paraventricular nuclei

integument

hyperkeratosis ( J:30430 )

• by P6, mutants displayed epidermal hyperkeratosis

flaky skin ( J:30430 )

• by P6, mutants had a flaking epidermis

cellular

abnormal pituicyte morphology ( J:30430 )

• complete loss of pituicytes by E19