Analysis Tools|
Allele Symbol Allele Name Allele ID |
Phf6tm1.2Avo targeted mutation 1.2, Anne K Voss MGI:6507035 |
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| Summary |
5 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice show an earlier onset of hematopoietic neoplasms that spontaneously occur in wild-type mice
• tumors are localized to the liver, spleen, and/or lymph nodes
• tumors express T-cell, B-cell, or myeloid/erythroid cell surface makers or show aberrant expression of markers from multiple hematopoietic lineages
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• females show reduced body weight by 3 weeks of age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 N |
• mice show partial rescue of the growth defects of hemizygous Phf6tm1.1Avo males, with an increase in body weight from 5 weeks of age, and no differences after 8 weeks
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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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
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• mice are slightly underrepresented by weaning with 17.7% versus the expected 25%
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• lean body volume, but not the adipose tissue volume, is reduced
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• body length and femur length are reduced, indicating that reduced body weight is a result of reduced overall growth rather than reduced adipose tissue
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• 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
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• pituitary is smaller but shows a normal histological structure
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• mice exhibit an increase in the inguinal subcutaneous and dorsal lumbar white fat
• however, no change in the interscapular brown adipose tissue is seen
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• adrenocorticotropic releasing hormone levels per cell in the pituitary gland are reduced
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• 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
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• 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
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• prolactin levels per cell in the pituitary gland are reduced
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• pituitary is smaller but shows a normal histological structure
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N |
• males are fertile
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Borjeson-Forssman-Lehmann syndrome | DOID:0050681 |
OMIM:301900 |
J:299742 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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(J:276228)
• Background Sensitivity: mice on this C57BL/6 background die perinatally while mice on a mixed C57BL/6, BALB/c, and FVB/N background survive postnatally, although they are slightly underrepresented
(J:299742)
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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 12/10/2024 MGI 6.24 |
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