Pdx1^em1Mhda
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pdx1^em1Mhda
• Name: pancreatic and duodenal homeobox 1; endonuclease-mediated mutation 1, Martin Hrabe de Angelis
• MGI ID: MGI:7863383
• Synonyms: PDX1^P33T
• Gene: Pdx1 Location: Chr5:147206907-147212658 bp, + strand Genetic Position: Chr5, 86.84 cM
• Alliance: Pdx1^em1Mhda page

Mutation origin

• Strain of Origin: C57BL/6NCrl

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutations: Single point mutation, Single point mutation
• Mutation details:

  CRISPR/Cas9 technology generated a proline to threonine substitution at amino acid 33 (p.P33T). This is the most prevelant pathological point mutation found in human patients with Maturity-onset Diabetes of the Young. (J:391114)

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Pdx1 Mutation: 37 strains or lines available

References

• Original: J:391114 Harten A, et al., MODY PDX1(P33T): a mouse model reveals phenotypic divergence from human disease. Front Endocrinol (Lausanne). 2025;16:1680893
• All: 1 reference(s)