Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Gene Review:

Mkks - McKusick-Kaufman syndrome protein

Mus musculus

Synonyms: 1300013E18Rik, AI463362, AI957237, Bbs6, Protein Bbs6 homolog

Fath, M.A. et al.

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Disease relevance of Mkks

This model shows that the absence of Mkks leads to retinal degeneration through apoptosis, failure of spermatozoa flagella formation, elevated blood pressure and obesity [1].
McKusick-Kaufman syndrome (MKS) is an autosomal recessive disorder characterized by post-axial polydactyly, congenital heart defects and hydrometrocolpos, a congenital structural abnormality of female genitalia [1].

Psychiatry related information on Mkks

Although there is overlap in clinical features between MKS and BBS, MKS patients are not obese and do not develop retinopathy or have learning disabilities [1].

References

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Fath, M.A., Mullins, R.F., Searby, C., Nishimura, D.Y., Wei, J., Rahmouni, K., Davis, R.E., Tayeh, M.K., Andrews, M., Yang, B., Sigmund, C.D., Stone, E.M., Sheffield, V.C. Hum. Mol. Genet. (2005) [Pubmed]

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