|Institutional Source||Beutler Lab|
|Gene Name||vezatin, adherens junctions transmembrane protein|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8137 (G1)|
|Chromosomal Location||93939165-94035817 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 93939292 bp|
|Amino Acid Change||Asparagine to Aspartic acid at position 94 (N94D)|
|Gene Model||predicted gene model for transcript(s):|
AA Change: N94D
|Meta Mutation Damage Score||0.0852|
|Coding Region Coverage||
|Validation Efficiency||100% (56/56)|
FUNCTION: This gene encodes a transmembrane protein that is essential for the formation of adherens junctions. It is required for both the pre-implantation morphogenesis of a blastocyst and for the implantation process. The encoded protein is also a component of the ankle-link complex in cochlear hair cells, where it may effect resilience to sound trauma. It is also thought to be involved in dendritic spine morphogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a null allele develop to the blastocyst stage inducing a decidual response but die at implantation. Only about half of blastocysts are able to hatch upon in vitro culture and mutant outgrowths show severe defects in intercellular adhesion and signs of cellular degeneration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Vezt||
(F):5'- TGCGCCTACTAATCGTTTGAG -3'
(R):5'- CTCATACCCGCAGCTTCAAG -3'
(F):5'- ACTAACACGCTGTCAGCT -3'
(R):5'- TCAATGGATCTCTTCAAAAACCTTC -3'