|Institutional Source||Beutler Lab|
|Gene Name||SLIT and NTRK-like family, member 6|
|Is this an essential gene?||Probably non essential (E-score: 0.162)|
|Stock #||R6890 (G1)|
|Chromosomal Location||110748580-110755149 bp(-) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||A to T at 110751096 bp|
|Amino Acid Change||Leucine to Stop codon at position 393 (L393*)|
|Ref Sequence||ENSEMBL: ENSMUSP00000077492 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000078386]|
|Predicted Effect||probably null
AA Change: L393*
AA Change: L393*
|Meta Mutation Damage Score||0.9716|
|Coding Region Coverage||
|Validation Efficiency||100% (39/39)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. This protein functions as a regulator of neurite outgrowth required for normal hearing and vision. Mutations in this gene are a cause of myopia and deafness. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygous deficient mice show pronounced reduction in cochlear innervation. Innervation to the posterior crista is variably impaired and a there is a loss of neurons in the spiral and vestibular ganglia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slitrk6||
(F):5'- TGTGCCGGTAAAACTTGAAGG -3'
(R):5'- GCAATTGCAAAGTTCTCTCCC -3'
(F):5'- TGAAGGTCCCTGGTAATATTTCC -3'
(R):5'- GCAAAGTTCTCTCCCCTTCGG -3'