Ovarian clear-cell carcinoma (OCCC) is an aggressive form of ovarian cancer with high ARID1A mutation rates. ARID1A loss alone does not lead to tumor formation but requires concurrent activation of the phosphoinositide 3-kinase catalytic subunit, PIK3CA. If you are an academic institution or nonprofit organization interested in this research tool for noncommercial purposes, please contact the researcher directly to inquire about availability.

The mice were created using the "plug and socket" method of gene targeting in murine embryonic stem cells to replace the two (cis) murine adult ß globin genes with a single copy of the human ßIVS-2-654 gene. The ßIVS-2-654 C-->T mutation accounts for approximately 20% of ß thalassemia mutations in southern China and causes aberrant RNA splicing and leads to ß0 thalassemia. The generated mice provide an animal model in which the antisense and other types of therapy can be tested in vivo and the first animal model of any disease resulting from a known human splicing mutation. These mice are available at The Jackson Laboratory and can be found at https://www.jax.org/strain/003250. 

A CCR5 antagonist has been shown to reduce the replication and cytopathic effects of HIV-1 without crippling T cell-mediated antiviral immunity.  Therefore these mice can be used as comparables for mice that are being used to screen CCR5 antagonists. If you are an academic institution or nonprofit organization interested in this research tool for noncommercial purposes, please contact the researcher directly to inquire about availability.

Two mouse models that have a knockout of receptors critical for resolving inflammation. These models are whole animal knockouts of either ERV1/ChemR23 or ALX/FPR2. Both receptors are G-protein coupled receptors that transmit signals related to the resolution of inflammation. If you are an academic institution or nonprofit organization interested in this research tool for noncommercial purposes, the ERV1/ChemR23 mouse is available from the Mutant Mouse Resource & Research Centers (MMRRC:068218-UNC). If you are interested in the ALX/FPR2 mouse,please contact the researcher directly to inquire about availability. Resolvin E1 derived from eicosapentaenoic acid prevents hyperinsulinemia and hyperglycemia in a host genetic manner. FASEB J. 2020;34(8):10640-10656. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7497168/

UBE3A encodes a HECT E3 ubiquitin ligase involved in ubiquitin-mediated protein turnover. It is implicated in transcriptional coactivation and helps maintain cellular homeostasis. Balance of UBE3A is directly linked to neurological disease, as deficiency of UBE3A leads to Angelman syndrome and over expression has been linked to Dup15q (Chromosome 15q11.2–q13.1 duplication) syndrome. Dup15q syndrome is a neurodevelopmental disorder characterized by intellectual disability, impaired motor coordination, and autism spectrum disorder. Multiple mouse models have been generated to study the link between UBE3A overexpression and Dup15q syndrome, however these models do not phenotypically match symptoms of Dup15q syndrome and possess design features like function-altering protein tags or highly excessive UBE3A overexpression which is not physiologic.   Researchers at UNC have developed a transgenic mouse model of conditional UBE3A overdosage that resembles the conditions seen in Dup15q syndrome. This BAC transgenic mouse expresses a mouse Ube3a transgene flanked by loxP sites for Cre-mediated deletion. If you are an academic institution or nonprofit organization interested in this research tool for non-commercial purposes, please contact the researcher directly to inquire about availability.  

Cryptochrome has been shown to play a pivotal role in circadian rhythms, which determine daily cycles for activities including but not limited to sleeping, feeding, hormone production, cell regeneration, and brain wave activity.  These two cryptochrome knockout mice have abnormally long or short circadian rhythms.  They may be used to investigate a variety of circadian rhythm dependent conditions such as seasonal affective disorder and delayed sleep phase syndrome. If you are an academic institution or nonprofit organization interested in this research tool for noncommercial purposes, please contact the researcher directly to inquire about availability.

Increased connective tissue growth factor (CTGF) is associated with fibrosis in chronic organ injury. Studying the role of CTGF in fibrotic disease in vivo, however, has been hampered by perinatal lethality and the limited scope of CTGF mice. In this single mutant mouse strain, replacement with or excision of a modified CTGF allele results in 60% normal CTGF expression (Lo allele) or increased CTGF expression (Hi allele), respectively. Overexpression of CTGF can cause abnormalities, including developmental delay, craniofacial defects, and embryonic death. CTGF Lo-Hi mutant mice should prove useful in further understanding the function of CTGF in fibrotic diseases. These mice are available at The Jackson Laboratory, and can be found at https://www.jax.org/strain/030767. Additionally, mice that carry a knock-out of the CTGF gene can be found at https://www.jax.org/strain/030769.

An imbalance of Na+ absorption and Cl- secretion can produce disease. Inadequate surface volume (hydration) allows mucus to adhere to airway surfaces and become the site of cystic fibrosis airway infection. Once mucus infection and host inflammatory responses become established, a complex spectrum of other factors influences the severity of lung disease. This animal model will allow in vivo evaluation of such factors and will aid the development of new therapeutic interventions for cystic fibrosis and possibly other chronic airway diseases that are characterized by airway inflammation and mucus obstruction (such as cigarette smoke−induced chronic bronchitis). If you are an academic institution or nonprofit organization interested in this research tool for noncommercial purposes, these mice are available from Jackson Laboratories: JAX Stock No: 005315 | Scnn1b-transgenic  JAX Stock No: 006176 | Scnn1b-Tg  JAX Stock No: 006438 | ßENaC-Tg J JAX Stock No. 030949 | C57BL/6N Scnn1b-Tg

The NLRP3 inflammasome is essential for caspase-1 activation and the release of interleukin (IL)-1ß, IL-18, and gasdermin-D in myeloid cells. However, research on species-specific NLRP3’s physiological impact is limited. We engineer mice with the human NLRP3 gene, driven by either the human or mouse promoter, via syntenic replacement at the mouse Nlrp3 locus. Both promoters facilitate hNLRP3 expression in myeloid cells, but the mouse promoter responds more robustly to LPS. Investigating the disease impact of differential NLRP3 regulation, we introduce the D305N gain-of-function mutation into both humanized lines. Chronic inflammation is evident with both promoters; however, CNS outcomes vary significantly. Despite poor response to LPS, the human promoter results in D305N-associated aseptic meningitis, mirroring human pathology. The mouse promoter, although leading to increased CNS expression post-LPS, does not induce meningitis in D305N mutants. Therefore, human-like NLRP3 expression may be crucial for accurate modeling of its role in disease pathogenesis.

These mice have no functional factor IX protein, which is an intrinsic clotting factor deficient in human victims of hemophilia B. They may be used in preclinical trials to screen possible human hemophilia B drugs. If you are an academic institution or nonprofit organization interested in this research tool for noncommercial purposes, please contact the researcher directly to inquire about availability.