Col4A3 knockout Mouse Model
Alport syndrome is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal failure. Progressive deafness and ocular anomalies may also occur (Mochizuki et al. 1994; Colville et al. 1997). Patients with Alport syndrome were reported to show mutations in collagen IV genes (Mochizuki et al.1994; Lemmink et al. 1994 and 1997; Gubler et al. 1995). Approximately 85% of cases of Alport syndrome are X-linked and are related to mutations in the Col4a5 gene. About 14% are autosomal recessive forms that are caused by mutations in Col4A3 and Col4A3 genes, while autosomal dominant inheritance is rare (van der Loop et al., 2000).
Mice homozygous for the Col4A3-/- targeted mutation are a model for autosomal-recessive Alport syndrome (Cosgrove et al. 2007). Animals bred on a 129/SvJ background develop glomerulonephritis and die at about 8.5 weeks of age (Jackson Laboratory strain: #002908). Gross et al. (2003) reported a mean survival of 10 weeks. Since homozygous Col4a3-/- mice reflect key features of Alport syndrome, this mouse model is useful to test potential drug candidates.
Typical analysis parameters are:
- Renal Smooth muscle actin
- Renal Periodic acid–Schiff (PAS) staining for polysaccharides
- Blood analyses
- Ability to urinate
QPS Austria is ready to provide samples (brain tissue, CSF etc.) from these animals for analyses in your laboratory.
We are happy to receive your inquiry.