ATP-dependent RNA helicase SUPV3L1, mitochondrial is an enzyme that in humans is encoded by the SUPV3L1 gene. [5] [6] [7]
ATP-dependent RNA helicase SUPV3L1, mitochondrial is an enzyme that in humans is encoded by the SUPV3L1 gene. [5] [6] [7]
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Abnormal |
| Recessive lethal study | Abnormal |
| 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 | Abnormal [8] |
| Body temperature | Normal |
| Eye morphology | Normal |
| Clinical chemistry | Normal |
| Plasma immunoglobulins | Normal |
| Haematology | Normal |
| Peripheral blood lymphocytes | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Skin Histopathology | Normal |
| Brain histopathology | Normal |
| Salmonella infection | Normal [9] |
| Citrobacter infection | Normal [10] |
| All tests and analysis from [11] [12] |
Model organisms have been used in the study of SUPV3L1 function. A conditional knockout mouse line, called Supv3l1tm1a(EUCOMM)Wtsi [13] [14] 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. [15] [16] [17]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. [11] [18] Twenty six tests were carried out and three significant phenotypes were reported. All homozygous mutant animals died prior to birth, and therefore none were observed at weaning. The remaining tests were carried out on heterozygous mutant mice and radiography showed female animals had defects in their transverse processes. [11]
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