Sbds^{em1(SBDS*)Dbau}
Endonuclease-mediated Allele Detail

Summary

• Symbol: Sbds^{em1(SBDS*)Dbau}
• Name: SBDS ribosome maturation factor; endonuclease-mediated mutation 1, Daniel E. Bauer
• MGI ID: MGI:7484403
• Gene: Sbds Location: Chr5:130274573-130284371 bp, - strand Genetic Position: Chr5, 68.97 cM
• Alliance: Sbds^{em1(SBDS*)Dbau} page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Hypomorph)
• Mutations: Insertion, Intragenic deletion, Nucleotide substitutions
• Sbds^{em1(SBDS*)Dbau} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  SBDS (51119)

  Sbds	(MGI:1913961)

• Mutation details: A 53bp segment of DNA containing the intron 2 5-prime splice site of endogenous mouse Sbds was replaced with 50 bp containing the intron 2 5-prime splice site found in human shwachman-diamond syndrome patients, c.258+2T>C. Assessment in MEFs shows that this is a hypomorph with aberrant splicing from a cryptic exon 2 splice site, and exon 2 skipping, with the residual wild type expression less than that found in the human samples. (J:335832)
• Inheritance: Not Specified

Disease models

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 Sbds Mutation: 31 strains or lines available

References

• Original: J:335832 Peters MJ, et al., Targeting a Putative Intronic Splicing Silencer Salvages Expression from the Recurrent SBDS C.258+2T>C Mutant Allele in Shwachman-Diamond Syndrome Patient Cells and Mouse Model. Blood. 2022;140(Suppl 1):29442945
• All: 1 reference(s)