MKS1

Meckel syndrome, type 1 also known as MKS1 is a is_associated_with::protein that in humans is encoded by the MKS1 is_associated_with::gene.

Function
The MKS1 protein along with meckelin are part of the flagellar apparatus basal body proteome and are required for is_associated_with::cilium formation.

Clinical significance
Mutations in the MKS1 are associated with is_associated_with::Meckel syndrome or is_associated_with::Bardet-Biedl syndrome.

Model organisms
is_associated_with::Model organisms have been used in the study of MKS1 function. A conditional is_associated_with::knockout mouse line, called Mks1tm1a(EUCOMM)Wtsi was generated as part of the is_associated_with::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 is_associated_with::phenotypic screen to determine the effects of deletion. Twenty five tests were carried out on is_associated_with::mutant mice and two significant abnormalities were observed. The is_associated_with::homozygous is_associated_with::mutant embryos identified during gestation had is_associated_with::polydactyly, is_associated_with::oedema and eye or craniofacial defects. None survived until is_associated_with::weaning. The remaining tests were carried out on is_associated_with::heterozygous mutant adult mice and no further abnormalities were observed.