|Institutional Source||Beutler Lab|
|Gene Name||notch 3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7162 (G1)|
|Chromosomal Location||32120820-32166880 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 32146449 bp|
|Amino Acid Change||Histidine to Glutamine at position 1096 (H1096Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000085016 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000087723]|
|Predicted Effect||probably damaging
AA Change: H1096Q
PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
AA Change: H1096Q
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||99% (85/86)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008]
PHENOTYPE: Some, but not all, null alleles cause defects in artery morphology and in T cell development. Progressive emaciation and kyphosis with paraphimosis occurs in an intron 31 splice donor site point mutant. In conjunction with Notch1 deficiency, abnormalities in embryonic development have been observed. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Notch3||
(F):5'- TGCTGACTCTGGATGAAGCTG -3'
(R):5'- ACACTAGGGATTGATGGCAGTG -3'
(F):5'- CTGAGTGATACAGAGTGCTTACC -3'
(R):5'- ATGGCCACCTCTGAGTCTGATG -3'