Notch3^em1Ecan
Endonuclease-mediated Allele Detail

Summary

• Symbol: Notch3^em1Ecan
• Name: notch 3; endonuclease-mediated mutation 1, Ernesto Canalis
• MGI ID: MGI:6400222
• Synonyms: Notch3^tm1.1Ecan
• Gene: Notch3 Location: Chr17:32339794-32385826 bp, - strand Genetic Position: Chr17, 17.37 cM
• Alliance: Notch3^em1Ecan page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology introduced a tandem termination codon at bases 6691-6696 (ACCAAG to TAATGA) in exon 33 leading to a T2231X change and creating a truncated protein of 2230 amino acids versus 2318 in wild-type devoid of the PEST domain. This is a mutation identified in a patient with lateral meningocele syndrome. (J:270682)

Expression

In Structures Affected by this Mutation:

4 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: 94 strains or lines available

References

• Original: J:270682 Canalis E, et al., The lateral meningocele syndrome mutation causes marked osteopenia in mice. J Biol Chem. 2018 Sep 7;293(36):14165-14177
• All: 4 reference(s)