|Institutional Source||Beutler Lab|
|Gene Name||notch 4|
|Synonyms||Int3, N4, Int-3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7182 (G1)|
|Chromosomal Location||34564268-34588503 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 34583499 bp (GRCm38)|
|Amino Acid Change||Valine to Glutamic Acid at position 1298 (V1298E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000015612 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000015612] [ENSMUST00000173389]|
AA Change: V1298E
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: V1298E
|Coding Region Coverage||
|Validation Efficiency||96% (70/73)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor may play a role in vascular, renal and hepatic development. Mutations in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile but exhibit a slight delay in postnatal retinal angiogenesis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Notch4||
(F):5'- GGAGTGGCCGTCATTCTCTATG -3'
(R):5'- TCTTTCCCATGAAGAGGAATCCC -3'
(F):5'- CCGTCATTCTCTATGAAGAAGGGTC -3'
(R):5'- TGAAGAGGAATCCCTAGCTCC -3'