|Institutional Source||Beutler Lab|
|Gene Name||neurogenic differentiation 4|
|Synonyms||bHLHa4, MATH-3, Atoh3, Math3|
|Is this an essential gene?||Possibly essential (E-score: 0.640)|
|Stock #||R6143 (G1)|
|Chromosomal Location||130268152-130280240 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 130271000 bp|
|Amino Acid Change||Tyrosine to Serine at position 135 (Y135S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000051379 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000061571]|
|Predicted Effect||probably damaging
AA Change: Y135S
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y135S
|Coding Region Coverage||
|Validation Efficiency||98% (62/63)|
FUNCTION: This gene belongs to the neurogenic differentiation factor family and encodes a basic helix-loop-helix (bHLH) transcription factor which is expressed in the developing nervous system with high levels of expression in the brain, retina and cranial ganglions. Expression gradually becomes restricted to the neural retina. It is a key gene in the Ngn2-regulated neuronal differentiation pathway, coordinating the onset of cortical gene transcription. This gene also regulates amacrine cell fate determination in the retina. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced growth, ataxia, and high postnatal mortality. Mutants show impaired postnatal cerebellar development, with thinner inner granular cell and molecular layers. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Neurod4||
(F):5'- CCATATGGCCATAAGGAGGG -3'
(R):5'- AAGCTCGCCTTGAAAGATTCAG -3'
(F):5'- CCCTGGAGACTGATAGTTGAAGCTG -3'
(R):5'- CTTGAAAGATTCAGGGCTCGAAG -3'