SPTBN1 - Model Organisms

Model Organisms

Spnb2 knockout mouse phenotype
Characteristic Phenotype
Homozygote viability Abnormal
Recessive lethal study Abnormal
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
Plasma immunoglobulins Normal
Haematology Normal
Peripheral blood lymphocytes Normal
Micronucleus test Normal
Heart weight Normal
Tail epidermis wholemount Normal
Skin Histopathology Normal
Brain histopathology Normal
MicroCT & Quantitative Faxitron Abnormal
Salmonella infection Normal
Citrobacter infection Normal
All tests and analysis from

Model organisms have been used in the study of spectrin function. A conditional knockout mouse line, called Spnb2tm1a(EUCOMM)Wtsi 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.

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty seven tests were carried out on mutant mice and four significant abnormalities were observed. Few homozygous mutant embryos were identified during gestation and those that were present displayed oedema. None survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice. These animals had a decreased length of long bones, while males also displayed hypoalbuminemia .

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