Notch3^tm1.1Dwr
Targeted Allele Detail

Summary

• Symbol: Notch3^tm1.1Dwr
• Name: notch 3; targeted mutation 1.1, Mieke Dewerchin
• MGI ID: MGI:5462093
• Synonyms: Notch3^Arg170Cys, Notch3^m
• Gene: Notch3 Location: Chr17:32339794-32385826 bp, - strand Genetic Position: Chr17, 17.37 cM
• Alliance: Notch3^tm1.1Dwr page

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 (Humanized sequence)
• 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), mimicking a mutation associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in humans. 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)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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: 93 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: 2 reference(s)