Notch3^hpbk
Chemically induced Allele Detail

Summary

• Symbol: Notch3^hpbk
• Name: notch 3; humpback
• MGI ID: MGI:4418503
• Gene: Notch3 Location: Chr17:32339794-32385826 bp, - strand Genetic Position: Chr17, 17.37 cM
• Alliance: Notch3^hpbk page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: Exome 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

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

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: 94 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)