Kaptin (actin binding protein)

Model organisms have been used in the study of KPTN function. A conditional knockout mouse line, called Kptn^{tm1a(EUCOMM)Wtsi}[16][17] 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.[18][19][20]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[14][21] Twenty two tests were carried out on mutant mice and six significant abnormalities were observed.[14] Homozygous mutant mice had hyperalbuminemia, decreased mature B cell numbers and increased susceptibility to bacterial infection. Female mice also had increased body weight, body fat and impaired glucose tolerance.[14]

Mutations in this gene have been associated with a syndrome of acrocephaly, muscular hypotonia, global development delay, dyspraxia and hand-mouth synkinesia.[22]