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Notch3hpbk
Chemically induced Allele Detail
Nomenclature
Symbol: Notch3hpbk
Name: notch 3; humpback
MGI ID: MGI:4418503
Gene: Notch3  Location: Chr17:32120820-32166852 bp, - strand  Genetic Position: Chr17, 17.37 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsExome sequencing of this ENU induced mutation revealed a G-to-A point mutation in Notch3, which disrupts the splice donor site at the exon 31-intron 31 boundary, changing it from G-GT to G-AT. (J:176116, J:222308)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 5 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Notch3 Mutation:  7 strains or lines available
References
Original:  J:157222 Karst SY, et al., Humpback: a new mutation on Chromosome 17 causing kyphosis and abnormal muscle phenotypes. MGI Direct Data Submission. 2010;
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory