Tg(Venus/SOX10*)55Kein
Transgene Detail

Summary

• Symbol: Tg(Venus/SOX10*)55Kein
• Name: transgene insertion 55, Ken Inoue
• MGI ID: MGI:5806870
• Synonyms: L55, SOX10-S1-Tg
• Transgene: Tg(Venus/SOX10*)55Kein Location: unknown
• Alliance: Tg(Venus/SOX10*)55Kein page

Transgene origin

• Strain of Origin: (C57BL/6 x C3H/He)F1

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Mutation details: A mouse bacterial artificial chromosome clone RP24-85014 containing 226-kb interval of the Sox10 locus was modified by recombineering to express the human SOX10 carrying a peripheral demyelinating neuropathy, central dysmyelinating leukodystorphy, Waardenburg syndrome, and Hirschsprung disease (PCWH)-causing 3' extension mutation (S1) and the fluorescent Venus protein in-frame to the Sox10 translation initiation codon. A frt-flanked neo cassette was inserted downstream of the Sox10 cDNA. This mutation deletes 12 base pairs starting from the second nucleotide of the putative stop codon, eliminating the stop codon and extending translation into the 3' UTR. This adds 82 amino acids to the wild-type protein sequence. Two lines, 55 and 196, were generated. Line 55 possesses two unlinked alleles of the transgene: one has a single copy of the transgene and the other contains two tandem copies. (J:227442)

Disease models

Expression

In Structures Affected by this Mutation:

4 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

References

• Original: J:227442 Ito Y, et al., Additive dominant effect of a SOX10 mutation underlies a complex phenotype of PCWH. Neurobiol Dis. 2015 Aug;80:1-14
• All: 1 reference(s)