Shpk^em1Scher
Endonuclease-mediated Allele Detail

Summary

• Symbol: Shpk^em1Scher
• Name: sedoheptulokinase; endonuclease-mediated mutation 1, Stephanie Cherqui
• MGI ID: MGI:7705855
• Synonyms: Shpk^deltaATG
• Gene: Shpk Location: Chr11:73090286-73115337 bp, + strand Genetic Position: Chr11, 45.25 cM, cytoband B4
• Alliance: Shpk^em1Scher page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 168 bp deletion centered around the start codon. RT-qPCR showed variable levels of mRNA expression with no differences compared to wild-type. However, immunoblotting confirmed complete absence of protein. (J:351905)

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 Shpk Mutation: 23 strains or lines available

References

• Original: J:351905 Goodman S, et al., Deficiency of the sedoheptulose kinase (Shpk) does not alter the ability of hematopoietic stem cells to rescue cystinosis in the mouse model. Mol Genet Metab. 2021 Dec;134(4):309-316
• All: 1 reference(s)