Sdr9c7^em1Maak
Endonuclease-mediated Allele Detail

Summary

• Symbol: Sdr9c7^em1Maak
• Name: 4short chain dehydrogenase/reductase family 9C, member 7; endonuclease-mediated mutation 1, Masashi Akiyama
• MGI ID: MGI:6469363
• Synonyms: Sdr9c7^-
• Gene: Sdr9c7 Location: Chr10:127734404-127747630 bp, + strand Genetic Position: Chr10, 76.39 cM, cytoband D3
• Alliance: Sdr9c7^em1Maak page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: A crRNA (5-CAACCAGTTGTTTGGCCAAC-3) targeting exon 1 and a trans-activating crRNA (tra-crRNA) were used with CRISPR/Cas9 technology to create a knockout allele. An ssODN (5-TCTTCATCACTGGCTGTGACTCCGGCTTTGGGAATCTGTTGGCCAAACAACTGGTTGATAGGGGCATGAAAGTGCTTGCT-3) was included to include a silent (synonymous) c.117C>T mutation to avoid cleavage by Cas9, reducing the chances of creating potentially embryonic lethal bi-allelic mutations. The resulting mutation is a single basepair deletion (c.123delG) in exon 1. Lack of protein expression from this allele was confirmed by immunohistochemistry. (J:295441)

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Sdr9c7 Mutation: 27 strains or lines available

References

• Original: J:295441 Takeichi T, et al., SDR9C7 catalyzes critical dehydrogenation of acylceramides for skin barrier formation. J Clin Invest. 2020 Feb 3;130(2):890-903
• All: 1 reference(s)