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| Caption | Phenotypic appearance of Tent5am1Mhda/Tent5am1Mhda (Fam46aE155*/-) mice. 22-week-old homozygous mutant mice showed a distinct phenotype with significantly reduced body size (short stature), abnormal limbs, and bone phenotypes. a) When compared to a wild-type (WT) littermate, the homozygous mutant had a reduced body size. b) The talocalcaneal joint of the left hind limb appeared thickened and reddened. c) At the right hind limb, shortening of the femur was present with an abnormal twisted talocalcaneal joint. d) X-ray analysis confirmed the hind limb abnormalities and showed in addition thickened humeral bones and a distorted thoracic vertebral column (black arrows). e-h) We performed SkyScan analysis of this mutant mouse. e) The thickening of the left talocalcaneal was identified to be more likely a malformation of the distal tibia. f) The right femur was shortened and seemed to be twisted possibly due to a fracture. The calcaneum in the right talocalcaneal joint was shortened, malformed, and appeared to be embedded in a hypertrophic mass of unknown tissue. g) These findings were also observed in the craniodorsal scan view. h) Thickening of the left humerus of the mutant mouse was detected at the region of the deltoid tuberosity (arrow). i, j) Images of total mouse skeletons showed shortened and severely malformed ribs with calluses, compression of the rib cage, abnormal scapulae, and a left shortened and thickened humerus in another mutant mouse not to be seen in the WT (white arrows). L left, R right. | ||||
| Copyright | This image is from Diener S, Mamm Genome 2016 Apr;27(3-4):111-21 and is displayed with the permission of Springer Science + Business Media, Inc., New York who owns the copyright. J:230816 | ||||
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Associated Genotypes |
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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 11/12/2024 MGI 6.24 |
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