|Institutional Source||Beutler Lab|
|Gene Name||transforming growth factor, beta induced|
|Synonyms||68kDa, bIG-h3, Beta-ig|
|Is this an essential gene?||Probably non essential (E-score: 0.133)|
|Stock #||R7770 (G1)|
|Chromosomal Location||56609523-56639562 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to A at 56632844 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000037719 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045173] [ENSMUST00000225600]|
|Predicted Effect||probably null
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||98% (55/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion. Mutations in this gene are associated with multiple types of corneal dystrophy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show delayed growth and are prone to spontaneous and induced tumors. Homozygotes for a second null allele are prone to STZ-induced diabetes and show impaired islet function under stress. Homozygotes for a third null allele show a transient decrease in retinal apoptosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tgfbi||
(F):5'- GTCCTCTGCTTACCAGGATC -3'
(R):5'- CCGAGAGACTGCCTTTTCAG -3'
(F):5'- GCTTACCAGGATCACATGCTTAG -3'
(R):5'- GAGACTGCCTTTTCAGAACAGTG -3'