| TBC1D10A | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | TBC1D10A , EPI64, TBC1D10, dJ130H16.1, dJ130H16.2, TBC1 domain family member 10A | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 610020 MGI: 2144164 HomoloGene: 32762 GeneCards: TBC1D10A | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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TBC1 domain family member 10A is a protein that in humans is encoded by the TBC1D10A gene. [5] [6]
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Normal |
| Fertility | Normal |
| Body weight | Normal |
| Anxiety | Normal |
| Neurological assessment | Normal |
| Grip strength | Normal |
| Hot plate | Normal |
| Dysmorphology | Normal |
| Indirect calorimetry | Normal |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Normal |
| Radiography | Normal |
| Body temperature | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Abnormal [7] |
| Haematology | Normal |
| Peripheral blood lymphocytes | Normal |
| Heart weight | Normal |
| Tail epidermis wholemount | Normal |
| Brain histopathology | Normal |
| Salmonella infection | Normal [8] |
| Citrobacter infection | Normal [9] |
| All tests and analysis from [10] [11] |
Model organisms have been used in the study of TBC1D10A function. A conditional knockout mouse line, called Tbc1d10atm2a(EUCOMM)Wtsi [12] [13] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute. [14] [15] [16] Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. [10] [17] Twenty three tests were carried out and one significant phenotype was reported. Homozygous mutant male adults had abnormal clinical chemistry, including decreased circulating LDL cholesterol, alanine transaminase and alkaline phosphatase levels. [10]
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