Coiled-coil domain containing 104 is a protein that in humans is encoded by the CCDC104 gene. [1]
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 | Normal |
Haematology | Normal |
Peripheral blood lymphocytes | Normal |
Heart weight | Normal |
Salmonella infection | Normal [2] |
Citrobacter infection | Abnormal [3] |
All tests and analysis from [4] [5] |
Model organisms have been used in the study of CCDC104 function. A conditional knockout mouse line, called Ccdc104tm1a(EUCOMM)Wtsi [6] [7] 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. [8] [9] [10]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. [4] [11] Twenty one tests were carried out on homozygous mutant mice and one significant abnormality was observed: increased susceptibility to Citrobacter infection. [4]
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