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Phenotypes Associated with This Genotype
involves: BALB/c * BALB/cJ * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phf6tm1.2Avo mutation (0 available); any Phf6 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• 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
• mice are slightly underrepresented by weaning with 17.7% versus the expected 25%

• lean body volume, but not the adipose tissue volume, is reduced
• body length and femur length are reduced, indicating that reduced body weight is a result of reduced overall growth rather than reduced adipose tissue
• 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
• pituitary is smaller but shows a normal histological structure

adipose tissue
• mice exhibit an increase in the inguinal subcutaneous and dorsal lumbar white fat
• however, no change in the interscapular brown adipose tissue is seen

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

nervous system
• pituitary is smaller but shows a normal histological structure

reproductive system
• males are fertile

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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.19
The Jackson Laboratory