Ankyrin repeat and sterile alpha motif domain containing 4B is a protein that in humans is encoded by the ANKS4B gene. [1] The gene is also known as HARP (Harmonin-interacting, ankyrin repeat-containing protein). Ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. [1]
Characteristic | Phenotype |
---|---|
Homozygote viability | Normal |
Fertility | Normal |
Body weight | Normal |
Anxiety | Normal |
Neurological assessment | Normal |
Grip strength | Normal |
Hot plate | Normal |
Dysmorphology | Normal [2] |
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 |
Skin Histopathology | Normal |
Brain histopathology | Normal |
Eye Histopathology | Normal |
Salmonella infection | Normal [3] |
Citrobacter infection | Normal [4] |
All tests and analysis from [5] [6] |
Model organisms have been used in the study of ANKS4B function. A conditional knockout mouse line, called Anks4btm2a(EUCOMM)Wtsi [7] [8] 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. [9] [10] [11]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. [5] [12] Twenty six tests were carried out on mutant mice, but no significant abnormalities were observed. [5]
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