Phenotypes Associated with This Genotype

Genotype
MGI:6507205

• Allelic Composition: Phf6^tm1.2Avo/Y
• Genetic Background: involves: BALB/c * BALB/cJ * C57BL/6 * FVB/N

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

mortality/aging

mortality/aging ( J:299742 )

♂N • Background Sensitivity: males survive postnatally on a mixed BALB/c, C57BL/6 and FVB/N background unlike mice on a mostly C57BL/6 (with some BALB/cJ) background that die perinatally

postnatal lethality, incomplete penetrance ( J:299742 )

♂ • mice are slightly underrepresented by weaning with 17.7% versus the expected 25%

growth/size/body

decreased lean body mass ( J:299742 )

♂ • lean body volume, but not the adipose tissue volume, is reduced

decreased body size ( J:299742 )

♂ • body length and femur length are reduced, indicating that reduced body weight is a result of reduced overall growth rather than reduced adipose tissue

decreased body weight ( J:299742 )

♂ • adult males exhibit a reduction in body weight, with a significant difference detected by 2 weeks of age

♂ • largest difference in body weight is at 3 weeks of age, when mice are about 50% smaller than controls

endocrine/exocrine glands

small pituitary gland ( J:299742 )

♂ • pituitary is smaller but shows a normal histological structure

adipose tissue

increased white adipose tissue amount ( J:299742 )

♂ • mice exhibit an increase in the inguinal subcutaneous and dorsal lumbar white fat

♂ • however, no change in the interscapular brown adipose tissue is seen

homeostasis/metabolism

decreased circulating insulin-like growth factor I level ( J:299742 )

♂

decreased adrenocorticotropin level ( J:299742 )

♂ • adrenocorticotropic releasing hormone levels per cell in the pituitary gland are reduced

decreased growth hormone level ( J:299742 )

♂ • reduction in pituitary gland growth hormone levels

♂ • anterior pituitary gland cells produce a reduced amount of growth hormone

♂ • growth hormone levels per cell in the pituitary glands are reduced

decreased circulating growth hormone level ( J:299742 )

♂ • mice show a reduction in the mean concentration and total secreted growth hormone to 55% of controls

♂ • however, levels and secretion of adrenocorticotrophic releasing hormone, follicle stimulating hormone, luteinizing hormone, prolactin, and thyroid stimulating hormone are normal

decreased prolactin level ( J:299742 )

♂ • prolactin levels per cell in the pituitary gland are reduced

nervous system

small pituitary gland ( J:299742 )

♂ • pituitary is smaller but shows a normal histological structure

reproductive system

reproductive system phenotype ( J:299742 )

♂N • males are fertile

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Borjeson-Forssman-Lehmann syndrome		DOID:0050681	OMIM:301900	J:299742