Mouse model library for rare diseases
In 2018, we started a project to comprehensively generate knockout (KO) mice of rare disease-related genes using genome editing technology. We are also creating mice that can be used as research tools for rare diseases. The mouse strains will be sequentially distributed through the Laboratory Animal Resource Bank as soon as the resource preparation (creation and quality evaluation of frozen embryos and/or sperm) are completed. A strain with a link to its detailed information is already available.
If you have any questions or comments about this project, please contact us at Contact.
KO mice were generated for nine causative genes of Hermansky-Pudlak syndrome (HPS), one type of ocular cutaneous leukoderma. Some of the causative genes are involved in gastrointestinal abnormalities (similar to Crohn's disease) and interstitial pneumonia. Therefore, these mice are expected to be used as symptom models not only for HPS but also for various diseases.
Mice (Col4a4-KO) deficient for Col4a4, one of the genes responsible for Alport syndrome, which presents with chronic nephritis, hearing loss, and ocular complications, were generated.
Idiopathic pulmonary fibrosis
Knockout mice were generated for genes associated with idiopathic pulmonary fibrosis (IPF), a type of idiopathic interstitial pneumonia (IDP)
|Cxcr3||Cxcr3-KO||No live mice was obtained due to lethality.|
|Twsg1||Twsg1-KO||No live mice was obtained due to lethality.|
|Wwtr1||Wwtr1-KO||No live mice was obtained due to lethality.|
Mice as tools for rare disease research
Hairless 4C30 mice
In mice, a large amount of major urinary protein (MUP) produced by the liver is excreted in the urine, so that even health mice show proteinuria. However, the gene is not expressed in humans. Therefore, mice (Mup-KO) knocked out of the Mup gene cluster by genome editing (CRISPR/Cas9) were generated.