Adamts17^em1Dhch
Endonuclease-mediated Allele Detail

Summary

• Symbol: Adamts17^em1Dhch
• Name: ADAM metallopeptidase with thrombospondin type 1 motif 17; endonuclease-mediated mutation 1, Dirk Hubmacher
• MGI ID: MGI:8266943
• Gene: Adamts17 Location: Chr7:66489483-66802919 bp, + strand Genetic Position: Chr7, 36.26 cM
• Alliance: Adamts17^em1Dhch page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Insertion
• Mutation details: CRISPR-targeting of exon 3 generated a null allele by the insertion of an AT (Adamts17 670_671insAT, NM_001033877.4) leading to a frameshift that results in a premature stop codon after 12 amino acids (p.I190fsX12). Quantitative real-time PCR showed a strong reduction in mRNA levels in lung tissue from homozygous mutant mice. Loss of protein was validated by immunostaining in tissues (skin and tibial growth plates) and primary skin fibroblasts isolated from homozygous mutant mice. (J:373026)
• Inheritance: Not Specified

Expression

In Mice Carrying this Mutation:	3 assay results
In Structures Affected by this Mutation:	9 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 Adamts17 Mutation: 57 strains or lines available

References

• Original: J:373026 Taye N, et al., Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and skin phenotypes. Life Sci Alliance. 2025 Dec;8(12)
• All: 1 reference(s)