|Institutional Source||Beutler Lab|
|Gene Name||seizure related gene 6|
|Is this an essential gene?||Probably non essential (E-score: 0.215)|
|Stock #||R6475 (G1)|
|Chromosomal Location||77930800-77979048 bp(+) (GRCm38)|
|Type of Mutation|
|DNA Base Change (assembly)||A to G at 77973844 bp|
|Amino Acid Change|
|Coding Region Coverage||
|Validation Efficiency||96% (54/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene have been associated with febrile seizures. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit increased short dendrites, decreased excitatory synaptic signaling, resistance to pharmacologically induces seizures, decreased activity and impaired learning and coordination. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sez6||
(F):5'- TGTTCCAAGCCCAAGATACACATTC -3'
(R):5'- AATCACACTGAGCTGTGGCC -3'
(F):5'- AGATACACATTCTGCCCTGAG -3'
(R):5'- GGACCTACCCTGCTTGTTG -3'