Notch4 - SNV Details



 Gene Information 
Gene Name Notch4
Old Gene Names for Notch4 Int-3 , Int3
Gene Description Notch gene homolog 4 (Drosophila) [Source:MGI Symbol;Acc:MGI:107471]
MGI phenotype Homozygotes develop normally and viable with normal fertility. Animals heterozygous for Notch1 deletion and lacking Notch4 are viable but exhibit postnatal growth retardation (80% of control weight at 2-3 weeks).
Uniprot Name
CCDS Name
Gene GO
Notch signaling pathway
calcium ion binding
cell differentiation
cell surface
endothelial cell differentiation
endothelial cell morphogenesis
integral to membrane
mammary gland development
membrane
multicellular organismal development
plasma membrane
Homolog in other species NOTCH4
Omim http://omim.org/entry/164951
Immgen Expression
LOW/MEDIAN(HIGH IN MYELOID GOUP, DC8+.TH, DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000015468
Chromosome 17
Coordinate 34,575,561     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 18
Allele Frequency
T:0.61
C:0.39
Amino Acid Change Disrupted splicing
Sample ID IGL00904
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved