Cel^{em2(CEL/CELP)Zlia}
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cel^{em2(CEL/CELP)Zlia}
• Name: carboxyl ester lipase; endonuclease-mediated mutation 2, Zhuan Liao
• MGI ID: MGI:8254864
• Synonyms: hCEL-HYB1
• Gene: Cel Location: Chr2:28445831-28453415 bp, - strand Genetic Position: Chr2, 19.38 cM
• Alliance: Cel^{em2(CEL/CELP)Zlia} page

Mutation origin

• Strain of Origin: C57BL/6JSmoc

Mutation description

• Allele Type: Endonuclease-mediated (Epitope tag, Humanized sequence, Null/knockout)
• Mutation: Insertion
• Cel^{em2(CEL/CELP)Zlia} expresses 2 genes
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  CEL (1056)

  Cel	(MGI:88374)

  human

  CELP (1057)
• Mutation details: A vector containing human CEL exons 2-11, human CELP exon 11 and a 3x Flag epitope tag at the amino terminus of CELP, mouse Cel 3' UTR, and SV40 polyA was inserted into exon 2 of the gene via CRISPR/Cas9 technology such that the expression of the human CEL/CELP hybrid sequence (hCEL-HYB1) is under the control of the mouse Cel genes upstream regulatory sequence and secretion is guided by the mouse signal peptide sequence. CEL-HYB1 is a hybrid allele that originated from homologous recombination between CEL and its pseudogene (CELP) and was found to be over-represented in 3 European cohorts with nonalcoholic chronic pancreatitis. The CEL-HYB1 sequence only contains 1 of the 2 non-synonymous SNPs (c.1463T>C, p.Ile488Thr) in the breakpoint region of CEL-HYB1. Western blot analysis confirmed expression of the human CEL/CELP hybrid protein in the pancreas but no expression of mouse Cel protein. (J:338873)

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 Cel Mutation: 30 strains or lines available

References

• Original: J:338873 Mao XT, et al., The CEL-HYB1 Hybrid Allele Promotes Digestive Enzyme Misfolding and Pancreatitis in Mice. Cell Mol Gastroenterol Hepatol. 2022 Apr 7;14(1):55-74
• All: 1 reference(s)