|Institutional Source||Beutler Lab|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8319 (G1)|
|Chromosomal Location||107760531-107912134 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (1 bp from exon)|
|DNA Base Change (assembly)||C to T at 107853266 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000129467 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000165341]|
|Predicted Effect||probably null
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Otogl||
(F):5'- GGCTAAAGATTTAGTCTATCCCTTACC -3'
(R):5'- AATGCTACTGTTATAGTGAGGACTG -3'
(F):5'- AGTCTATCCCTTACCAATAAGAGAAC -3'
(R):5'- GACTGTCAGTTAGGATCACTGGATAC -3'