| TRPC4AP | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | TRPC4AP , C20orf188, PPP1R158, TRRP4AP, TRUSS, transient receptor potential cation channel subfamily C member 4 associated protein | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608430 MGI: 1930751 HomoloGene: 9224 GeneCards: TRPC4AP | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Trpc4-associated protein is a protein that in humans is encoded by the TRPC4AP gene.
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Abnormal |
| Recessive lethal study | Abnormal |
| Body weight | Normal |
| Anxiety | Normal |
| Neurological assessment | Normal |
| Grip strength | Normal |
| Hot plate | Normal |
| Dysmorphology | Abnormal [5] |
| Indirect calorimetry | Normal |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Normal |
| Radiography | Normal |
| Body temperature | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Normal |
| Plasma immunoglobulins | Normal |
| Haematology | Normal |
| Peripheral blood lymphocytes | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Brain histopathology | Normal |
| Eye Histopathology | Normal |
| Salmonella infection | Normal [6] |
| Citrobacter infection | Normal [7] |
| All tests and analysis from [8] [9] |
Model organisms have been used in the study of TRPC4AP function. A conditional knockout mouse line, called Trpc4aptm1a(KOMP)Wtsi [10] [11] 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. [12] [13] [14]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. [8] [15] Twenty five tests were carried out on mutant mice and three significant abnormalities were observed. [8] Few homozygous mutant embryos were identified during gestation, and thus fewer than expected survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; females had an abnormal anagen phase of the hair cycle. [8]
TRPC4AP has been shown to interact with TNFRSF1A. [16] [ clarification needed ]
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