Relt^em1Jpsi
Endonuclease-mediated Allele Detail

Summary

• Symbol: Relt^em1Jpsi
• Name: RELT tumor necrosis factor receptor; endonuclease-mediated mutation 1, James P Simmer
• MGI ID: MGI:6369620
• Gene: Relt Location: Chr7:100495054-100512653 bp, - strand Genetic Position: Chr7, 54.44 cM
• Alliance: Relt^em1Jpsi page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology introduced a translation termination codon TGA to replace proline codon CCC at position 396 (NM_177073.6) in exon 10 (alternatively, p.396* in NP_001345843.1). (J:279949)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Relt Mutation: 24 strains or lines available

References

• Original: J:279949 Kim JW, et al., Mutations in RELT cause autosomal recessive amelogenesis imperfecta. Clin Genet. 2019 Mar;95(3):375-383
• All: 1 reference(s)