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Gene Review:

Bbs4 - Bardet-Biedl syndrome 4 (human)

Mus musculus

Synonyms: AW537059, AW742241, Bardet-Biedl syndrome 4 protein homolog, D9Ertd464e

Eichers, E.R. et al., Kulaga, H.M. et al., Mykytyn, K. et al.

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Disease relevance of Bbs4

In this study, we show that mice lacking the Bbs4 protein have major components of the human phenotype, including obesity and retinal degeneration [1].

High impact information on Bbs4

To test whether this phenotype is caused by ciliary defects of olfactory sensory neurons, we examined mice with deletions of Bbs1 or Bbs4 [2].
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly [1].
To investigate the etiopathogenesis of BBS, we created a mouse null for one of the murine homologues, Bbs4, to assess the contribution of one gene to the pleiotropic murine Bbs phenotype [3].
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity [3].

References

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Mykytyn, K., Mullins, R.F., Andrews, M., Chiang, A.P., Swiderski, R.E., Yang, B., Braun, T., Casavant, T., Stone, E.M., Sheffield, V.C. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Kulaga, H.M., Leitch, C.C., Eichers, E.R., Badano, J.L., Lesemann, A., Hoskins, B.E., Lupski, J.R., Beales, P.L., Reed, R.R., Katsanis, N. Nat. Genet. (2004) [Pubmed]
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity. Eichers, E.R., Abd-El-Barr, M.M., Paylor, R., Lewis, R.A., Bi, W., Lin, X., Meehan, T.P., Stockton, D.W., Wu, S.M., Lindsay, E., Justice, M.J., Beales, P.L., Katsanis, N., Lupski, J.R. Hum. Genet. (2006) [Pubmed]

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AgaP_AGAP004828	Anopheles gambiae str. PEST
BBS4	Bos taurus
CELE_F58A4.14	Caenorhabditis elegans
BBS4	Canis lupus familiaris
bbs4	Danio rerio
BBS4	Drosophila melanogaster
BBS4	Gallus gallus
BBS4	Homo sapiens
BBS4	Macaca mulatta
BBS4	Pan troglodytes
Bbs4	Rattus norvegicus
bbs4	Xenopus (Silurana) tropicalis

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