Stub1^em1Schiz
Endonuclease-mediated Allele Detail

Summary

• Symbol: Stub1^em1Schiz
• Name: STIP1 homology and U-Box containing protein 1; endonuclease-mediated mutation 1, Jonathan Schisler
• MGI ID: MGI:5883530
• Synonyms: CHIP, CHIP^M247
• Gene: Stub1 Location: Chr17:26049608-26051893 bp, - strand Genetic Position: Chr17, 12.93 cM, cytoband B1
• Alliance: Stub1^em1Schiz page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology generated an ACA to ATG mutation at nucleotides 740 and 741, resulting in a change of threonine to methionine at amino acid 247. This mutation is predicted to result in loss of ubiquitin ligase activity. Western blot analysis indicates significantly lower protein levels, potentially due to shorter half-life of the mutated protein. (J:260672)
• Inheritance: Recessive

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 Stub1 Mutation: 20 strains or lines available

References

• Original: J:260672 Wu Q, et al., CHIP Regulates Aquaporin-2 Quality Control and Body Water Homeostasis. J Am Soc Nephrol. 2018 Mar;29(3):936-948
• All: 2 reference(s)