Dspp^em1Yolu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dspp^em1Yolu
• Name: dentin sialophosphoprotein; endonuclease-mediated mutation 1, Yongbo Lu
• MGI ID: MGI:6363715
• Synonyms: Dspp^P19L
• Gene: Dspp Location: Chr5:104318578-104327993 bp, + strand Genetic Position: Chr5, 50.59 cM
• Alliance: Dspp^em1Yolu page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Hypomorph)
• Mutation: Single point mutation
• Mutation details: Using CRISPR/Cas9 technology and an sgRNA and an ssODN donor, exon 2 was targeted with a c.56C>T mutation to change codon 19 from proline to leucine (p.P19L). Additionally, a silent c.45G>C mutation was introduced into the third base of alanine codon 15. The P19L substitution is the equivalent of the P17L mutation found in human dentinogenesis imperfecta (DGI) type II and type III patients. (J:278819)

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 Dspp Mutation: 67 strains or lines available

References

• Original: J:278819 Liang T, et al., Mutant Dentin Sialophosphoprotein Causes Dentinogenesis Imperfecta. J Dent Res. 2019 Jul;98(8):912-919
• All: 3 reference(s)