Hnf1a^em1Jmer
Endonuclease-mediated Allele Detail

Summary

• Symbol: Hnf1a^em1Jmer
• Name: HNF1 homeobox A; endonuclease-mediated mutation 1, Juanita L Merchant
• MGI ID: MGI:7517040
• Synonyms: HNF1A^A98V
• Gene: Hnf1a Location: Chr5:115087039-115109121 bp, - strand Genetic Position: Chr5, 55.99 cM, cytoband F
• Alliance: Hnf1a^em1Jmer page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated an alanine to valine substitution at amino acid 98 (p.A98V). This missense mutation within the proximal DNA binding domain was identified in early-onset colorectal cancer patients. (J:338869)

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 Hnf1a Mutation: 33 strains or lines available

References

• Original: J:338869 Song H, et al., High-fat diet plus HNF1A variant promotes polyps by activating beta-catenin in early-onset colorectal cancer. JCI Insight. 2023 Jul 10;8(13)
• All: 1 reference(s)