MKS1

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

Function

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

Clinical significance

Mutations in the MKS1 are associated with Meckel syndrome or Bardet-Biedl syndrome.

Model organisms

Mks1 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
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
Plasma immunoglobulins	Normal
Haematology	Normal
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
Salmonella infection	Normal
Citrobacter infection	Normal
All tests and analysis from

Model organisms have been used in the study of MKS1 function. A conditional knockout mouse line, called Mks1^{tm1a(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 five tests were carried out on mutant mice and two significant abnormalities were observed. The homozygous mutant embryos identified during gestation had polydactyly, oedema and eye or craniofacial defects. None survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice and no further abnormalities were observed.

External links

• GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome