|Institutional Source||Beutler Lab|
|Gene Name||claudin 11|
|Synonyms||Otm, Osp, oligodendrocyte-specific protein|
|Is this an essential gene?||Probably non essential (E-score: 0.177)|
|Stock #||R2122 (G1)|
|Chromosomal Location||31149920-31164324 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 31163151 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 156 (Y156C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000042181 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000046174]|
|Predicted Effect||probably damaging
AA Change: Y156C
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: Y156C
|Coding Region Coverage||
FUNCTION: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is a major component of CNS (central nervous system) myelin and plays an important role in regulating proliferation and migration of oligodendrocytes. The basal cell tight junctions in stria vascularis are primarily composed of this protein, and the gene-null mice suffer severe deafness. This protein is also an obligatory protein for tight junction formation and barrier integrity in the testis and the gene deficiency results in loss of the Sertoli cell epithelial phenotype in the testis. [provided by RefSeq, Aug 2010]
PHENOTYPE: Homozygous null mice exhibit tremors, impaired coordination, hindlimb weakness, abnormal myelination of the cranial nerves, increased auditory thresholds, and abnormal stria vascularis. Mutant males have small testes, abnormal seminiferous tubules, and sperm abnormalities resulting in infertility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cldn11||
(F):5'- GCTGTCAGTGCATTCTTAGAGC -3'
(R):5'- GAGCAGCCCTCTTAGACATG -3'
(F):5'- TCAGTGCATTCTTAGAGCAGAGG -3'
(R):5'- CTCTTAGACATGGGCACTCTTGG -3'