| Primary Identifier | MGI:3772357 | Allele Type | Transgenic |
| Gene | mgb | Inheritance Mode | Recessive |
| Strain of Origin | FVB/N | Is Recombinase | false |
| Is Wild Type | false |
| description | Phenotypic Similarity to Human Syndrome: Congenital Obstructive Nephropathy J:207566. |
| molecularNote | This mutation resulted from a random transgene insertion followed by a chromosomal translocation. A transgene consisting of a bovine Slc5a3 gene under the control of an alphaA- and alphaB- crystallin chimeric promoter inserted into chromosome 16 between 26.6 and 27.5 Mb. The transgene in conjuction with a portion of chromosome 16 then translocated into chromosome 11. The translocation site in chromosome 11 is in the region spanning 65215576 - 66268441 approximately 418 kb upstream of Myocd and includes a 24 bp deletion downstream of Map2k4. Expression profiling confirms significant reduction in Myocd expression. The molecular events were confirmed by FISH analysis using probes that recognized the transgene and chromosome 16, and by karotype analysis. Once the line was established, genotyping was performed by quantitative RT-PCR using primers specific for the transgene. Two other independent founder strains made with the same transgenic construct did not exhibit the mgb phenotype. |
