| Primary Identifier | MGI:5774447 | Allele Type | Transgenic |
| Attribute String | Reporter | Gene | Tg(Sox3-GFP,Tyr)HolNpln |
| Inheritance Mode | Semidominant | Strain of Origin | FVB/N |
| Is Recombinase | false | Is Wild Type | false |
| description | Hirschsprung Disease, Susceptibility to, 1; HSCR1 (OMIM ID: 142623) disease association is due to Col6a4 over-expression induced by the transgene insertion. J:229828 |
| molecularNote | A transgenic construct containing GFP under the control of the Sox3 promoter was co-injected with a tyrosinase minigene at equimolar ratios. The hol (holstein) line contains 11 copies of the transgene inserted into chromosome 9 between Col6a4 and Glyctk and deletes 153 bp. GFP expression is not detected. FACS analysis confirmed increased expression of Col6a4 in the proximal and distal small intestine and cecum. |
