Hnf1a^em1Yumia
Endonuclease-mediated Allele Detail

Summary

• Symbol: Hnf1a^em1Yumia
• Name: HNF1 homeobox A; endonuclease-mediated mutation 1, Miao Yu
• MGI ID: MGI:7562174
• Synonyms: K117E
• Gene: Hnf1a Location: Chr5:115087039-115109121 bp, - strand Genetic Position: Chr5, 55.99 cM, cytoband F
• Alliance: Hnf1a^em1Yumia page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRIPSR/cas9 mediated recombination created 3 nucleotide changes (GAAG to CGAA) resulting in a substitution mutation of lysine 117 to glutamic acid. The homologous mutation in humans is associated with maturity-onset diabetes of the young 3. (J:342895)

Expression

In Mice Carrying this Mutation:

2 RNA-Seq or microarray experiment(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 Hnf1a Mutation: 29 strains or lines available

References

• Original: J:342895 Chu Y, et al., Lysine 117 Residue Is Essential for the Function of the Hepatocyte Nuclear Factor 1alpha. Diabetes. 2023 Oct 1;72(10):1502-1516
• All: 1 reference(s)