Sox9^tm1.2Ksec
Targeted Allele Detail

Summary

• Symbol: Sox9^tm1.2Ksec
• Name: SRY (sex determining region Y)-box 9; targeted mutation 1.2, Kathryn S E Cheah
• MGI ID: MGI:7451121
• Synonyms: Sox9^Y440X, Sox9^{Y440X-IRES-EGFP}
• Gene: Sox9 Location: Chr11:112673050-112678586 bp, + strand Genetic Position: Chr11, 77.27 cM
• Alliance: Sox9^tm1.2Ksec page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:332093
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence, Reporter)
• Mutations: Insertion, Single point mutation
• Mutation details: LoxP sites were inserted into intron 2 and downstream of final exon 3, and a copy of exon 3 (with a C-to-G tyrosine (TAC) to stop codon (TAG) mutation in codon 440 (p.Y440*) and with IRES sequence, the EGFP reporter gene and poly(A) signal sequences in the 3' UTR) and an FRT site flanked neomycin resistance gene cassette were inserted downstream of the gene. The neo cassette was removed through subsequent Flp-mediated recombination and wild-type exon 3 was deleted through Cre-mediated recombination. This allele will express the mutant exon 3 (with its premature stop codon) together with the EGFP reporter. The mutation mimics the same human mutation, which is associated with campomelic dysplasia. (J:332093)
• Inheritance: Dominant

Disease models

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	2 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 Sox9 Mutation: 33 strains or lines available

References

• Original: J:332093 Szeto IYY, et al., SOX9 and SOX10 control fluid homeostasis in the inner ear for hearing through independent and cooperative mechanisms. Proc Natl Acad Sci U S A. 2022 Nov 16;119(46):e2122121119
• All: 1 reference(s)