|Institutional Source||Beutler Lab|
|Gene Name||orthodenticle homeobox 1|
|Is this an essential gene?||Probably essential (E-score: 0.813)|
|Stock #||R5841 (G1)|
|Chromosomal Location||21994764-22002897 bp(-) (GRCm38)|
|Type of Mutation||intron|
|DNA Base Change (assembly)||T to C at 21998594 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000134704 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006071] [ENSMUST00000147486]|
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
FUNCTION: This gene encodes a member of the bicoid subfamily of the paired homeobox transcription factor family. The encoded protein is critical to the maintenance and regionalization of the forebrain and midbrain during development. It may also have important functions in sense organ development, pituitary function, and in the regulation of blood cell production. [provided by RefSeq, Jul 2008]
PHENOTYPE: Inner ear abnormalities and circling/head-shaking behavior are seen in mild mutants; null mutants also have spontaneous seizures and defects in dorsal telencephalic cortex, mesencephalon, cerebellum and eye; and show delayed growth and sexual maturation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Otx1||
(F):5'- CTCGCGCATGAAGATGTCTG -3'
(R):5'- ACTCTTCTGGCATGATGGGG -3'
(F):5'- CGCATGAAGATGTCTGGGTAGC -3'
(R):5'- TCTCTTGGAAAAAGTGACCCCTGG -3'