|
|
| Nomenclature |
|
Symbol:
|
Notch3tm1.1Dwr
|
|
Name:
|
notch 3;
targeted mutation 1.1, Mieke Dewerchin
|
|
MGI ID: |
MGI:5462093 |
|
Synonyms: |
Notch3Arg170Cys, Notch3m |
|
Gene:
|
Notch3
Location:
Chr17:32120820-32166880 bp, - strand
Genetic Position: Chr17,
17.37 cM
|
|
Mutation origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:191454
|
|
Parent Cell Line:
| Not Specified (ES Cell) |
|
Strain of Origin:
|
129S/SvEv
|
|
Mutation description |
|
Allele
Type: | |
Targeted (knock-in) |
|
Mutations: | |
Insertion, Nucleotide substitutions |
| |
|
Mutation details: Exon 4 was replaced with one in which a C to T transition resulted in the amino acid substitution of cysteine for arginine at position 170 (R170C). A silent mutation creating a HincII site was introduced in exon 4 for genotyping purposes. Cre-mediated recombination removed the floxed neo cassette inserted downstream of exon 5 (J:191454)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
|
Carrying any Notch3 Mutation:
|
7 strains or lines available |
|
| References |
|
Original: |
J:191454
Wallays G et al.,
"Notch3 Arg170Cys knock-in mice display pathologic and clinical features of the neurovascular disorder cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy."
Arterioscler Thromb Vasc Biol 2011 Dec;31(12):2881-8
|
|
All: |
1 reference(s)
|
|