|Institutional Source||Beutler Lab|
|Gene Name||basic helix-loop-helix family, member e23|
|Synonyms||A930001L02Rik, BETA4, beta-cell E-box transactivating factor 4, Bhlhb4|
|Is this an essential gene?||Possibly non essential (E-score: 0.391)|
|Stock #||R6765 (G1)|
|Chromosomal Location||180774381-180776900 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 180776343 bp|
|Amino Acid Change||Arginine to Leucine at position 134 (R134L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000104506 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000108878]|
|Predicted Effect||probably damaging
AA Change: R134L
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: R134L
|Coding Region Coverage||
|Validation Efficiency||100% (58/58)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the basic helix-loop-helix transcription factor family. Members of this family contain two highly conserved and functionally distinct domains: the basic domain targets sequence-specific DNA binding, while the helix-loop-helix domain facilitates protein interaction. Studies of a related gene in mouse suggest that the encoded protein may function as a transcriptional repressor in the pancreas and brain, and that it is required for normal retinal function. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a knock-out allele display a severe deficit in retinal activity characterized by improper retinal rod bipolar cell maturation, loss of the scotopic ERG b-wave, and a significant increase in inner nuclear layer (INL) cell apoptosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bhlhe23||
(F):5'- TAAATCGCTGCCTGGCCAAAG -3'
(R):5'- CAAGAAGCCATACTGCCGTAG -3'
(F):5'- CCAAAGGGCGTTAGAGGC -3'
(R):5'- TCATGGCCGAGCTCAAGTC -3'