Meckel syndrome, type 1 also known as MKS1 is a protein that in humans is encoded by the MKS1 gene. [5]
Meckel syndrome, type 1 also known as MKS1 is a protein that in humans is encoded by the MKS1 gene. [5]
The MKS1 protein along with meckelin are part of the flagellar apparatus basal body proteome and are required for cilium formation. [6]
Mutations in the MKS1 are associated with Meckel syndrome [5] [7] or Bardet–Biedl syndrome. [8]
| 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 [9] |
| Citrobacter infection | Normal [10] |
| All tests and analysis from [11] [12] |
Model organisms have been used in the study of MKS1 function. A conditional knockout mouse line, called Mks1tm1a(EUCOMM)Wtsi [13] [14] 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. [15] [16] [17]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. [11] [18] Twenty five tests were carried out on mutant mice and two significant abnormalities were observed. [11] 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. [11]
Centrosomal protein of 290 kDa is a protein that in humans is encoded by the CEP290 gene. CEP290 is located on the Q arm of chromosome 12.
Whirlin is a protein that in humans is encoded by the DFNB31 gene.
McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.
Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations in this gene have been observed in patients with the major form of Bardet–Biedl syndrome.
Bardet–Biedl syndrome 5 protein is a protein that in humans is encoded by the BBS5 gene.
ADP-ribosylation factor-like protein 6 is a protein that in humans is encoded by the ARL6 gene.
Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.
Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 is a protein that in humans is encoded by the NIPA1 gene. This gene encodes a potential transmembrane protein which functions either as a receptor or transporter molecule, possibly as a magnesium transporter. This protein is thought to play a role in nervous system development and maintenance. Alternative splice variants have been described, but their biological nature has not been determined. Mutations in this gene have been associated with the human genetic disease autosomal dominant spastic paraplegia 6.
Tripartite motif-containing protein 32 is a protein that in humans is encoded by the TRIM32 gene. Since its discovery in 1995, TRIM32 has been shown to be implicated in a number of diverse biological pathways.
Nephrocystin-3 is a protein that in humans is encoded by the NPHP3 gene.
Meckelin is a protein that in humans is encoded by the TMEM67 gene.
A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies, or ciliary function. Primary cilia are important in guiding the process of development, so abnormal ciliary function while an embryo is developing can lead to a set of malformations that can occur regardless of the particular genetic problem. The similarity of the clinical features of these developmental disorders means that they form a recognizable cluster of syndromes, loosely attributed to abnormal ciliary function and hence called ciliopathies. Regardless of the actual genetic cause, it is clustering of a set of characteristic physiological features which define whether a syndrome is a ciliopathy.
Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet–Biedl syndrome 8 is a protein that in humans is encoded by the TTC8 gene.
Bardet–Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene.
Bardet–Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene.
Bardet–Biedl syndrome 10, also known as BBS10 is a human gene.
Bardet–Biedl syndrome 12 is a protein that in humans is encoded by the BBS12 gene.
Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene.
Transmembrane protein 216 is a protein in humans that is encoded by the TMEM216 gene.
ADP-ribosylation factor-like protein 13B (ARL13B), also known as ADP-ribosylation factor-like protein 2-like 1, is a protein that in humans is encoded by the ARL13B gene.