Summary | Transgene origin | Transgene description | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Tg(SMN1-SMN2*)16Cll
Name:	transgene insertion 16, Christian L Lorson
MGI ID:	MGI:5490785
Synonyms:	SMNRT
Transgene:	Tg(SMN1-SMN2*)16Cll  Location: unknown
Alliance:	Tg(SMN1-SMN2*)16Cll page

Strain of Origin:

FVB/N

Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence) Mutation:    Insertion   Tg(SMN1-SMN2*)16Cll expresses 1 gene Transgene expresses: Organism Expressed Gene Homolog in Mouse Note human SMN2 (6607) Smn1  (MGI:109257)   Mutation details: This transgene consists of 3.4 kb promoter and 5'-untranslated region from the human SMN1 gene, the complete coding sequence of human SMN2 cDNA containing the silent C to T transition in exon 7 that results in the alternatively spliced transcript without exon 7 (SMNdelta7) and a TAG to TAT alteration in the first stop codon in exon 8 (change from a stop codon to a tyrosine), and the 3'-UTR of SMN1. The TAG to TAT change in exon 8 allows for translational stop codon read-through of the SMNdelta7 and generates an extended SMN2 protein. Thirteen lines were produced. (J:194969)

View phenotypes and curated references for all genotypes (concatenated display).

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available

Original:	J:194969 Cobb MS, et al., Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy. Hum Mol Genet. 2013 May 1;22(9):1843-55
All:	2 reference(s)