IVS6-1G>T_ratno-thyro

General

Gene Locus : ratno-thyro

Mode of mutation : Natural mutant

Disease :

Summary :

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification :

Torpedo_number : No torpedo number

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
IVS6-1G>T c.749-1G>T the acceptor site (3' end) of intron 6 that induces a complete missing of exon 7 in Wistar Hannover GALAS rat that manifests two distinct spontaneous abnormalities, goiter and dwarfism

References (1)

Title : A novel mutation in the thyroglobulin gene that causes goiter and dwarfism in Wistar Hannover GALAS rats - Sato_2014_Mutat.Res_762_17
Author(s) : Sato A , Abe K , Yuzuriha M , Fujii S , Takahashi N , Hojo H , Teramoto S , Aoyama H
Ref : Mutat Res , 762 :17 , 2014
Abstract :
PubMedSearch : Sato_2014_Mutat.Res_762_17
PubMedID: 24582622