Tg(Tyr)HolNpln
Transgene Detail

Summary

• Symbol: Tg(Tyr)HolNpln
• Name: transgene insertion Hol, Nicolas Pilon
• MGI ID: MGI:5774447
• Synonyms: Hol^Tg, Tg(Sox3-GFP,Tyr)HolNpln
• Transgene: Tg(Tyr)HolNpln Location: Chr9:105867308-106035337 bp Genetic Position: Chr9, Syntenic
• Alliance: Tg(Tyr)HolNpln page

Transgene origin

• Strain of Origin: FVB/N

Transgene description

• Transgene Type: Transgenic (Inserted expressed sequence)
• Mutations: Insertion, Intergenic deletion
• Mutation details: Around 11 copies of a tyrosinase minigene (consisting of the Tyr distal enhancer in reverse orientation upstream of the proximal promoter and complete Tyr cDNA) replaced a 153 bp sequence on chromosome 9 between Col6a4 and Glyctk. The transgene was co-injected, and co-integrated, with the Tg(SOX3-GFP)#Npln transgene. FACS analysis confirmed increased expression of Col6a4 in the proximal and distal small intestine and cecum. This Holstein line was generated in a forward genetic screen aimed at identifying genes with key roles in neural crest cells. (J:224231, J:229828)
• Inheritance: Semidominant

Disease models

Expression

In Structures Affected by this Mutation:

5 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

Notes

Hirschsprung Disease, Susceptibility to, 1; HSCR1 (OMIM ID: 142623) disease association is due to Col6a4 over-expression induced by the transgene insertion. J:229828

References

• Original: J:229828 Soret R, et al., A collagen VI-dependent pathogenic mechanism for Hirschsprung's disease. J Clin Invest. 2015 Dec;125(12):4483-96
• All: 5 reference(s)