20240008460. JAK3 GENE-MUTATED, SEVERE COMBINED IMMUNODEFICIENCY ANIMAL MODEL AND CONSTRUCTION METHOD THEREFOR simplified abstract (KOREA RESEARCH INSTITUTE OF BIOSCIENCE AND BIOTECHNOLOGY)

JAK3 GENE-MUTATED, SEVERE COMBINED IMMUNODEFICIENCY ANIMAL MODEL AND CONSTRUCTION METHOD THEREFOR

Organization Name

KOREA RESEARCH INSTITUTE OF BIOSCIENCE AND BIOTECHNOLOGY

Inventor(s)

Sun Uk Kim of Daejeon (KR)

Young Ho Park of Daejeon (KR)

Bo Woong Sim of Daejeon (KR)

Kyu Tae Chang of Daejeon (KR)

Seung Hwan Lee of Daejeon (KR)

Bong Seok Song of Daejeon (KR)

Pil Soo Jeong of Daejeon (KR)

Hae Jun Yang of Daejeon (KR)

Sang Rae Lee of Daejeon (KR)

Yeung Bae Jin of Daejeon (KR)

Kang Jin Jeong of Daejeon (KR)

JAK3 GENE-MUTATED, SEVERE COMBINED IMMUNODEFICIENCY ANIMAL MODEL AND CONSTRUCTION METHOD THEREFOR - A simplified explanation of the abstract

This abstract first appeared for US patent application 20240008460 titled 'JAK3 GENE-MUTATED, SEVERE COMBINED IMMUNODEFICIENCY ANIMAL MODEL AND CONSTRUCTION METHOD THEREFOR

Simplified Explanation

The present disclosure is about a genetically modified animal model with a mutation in the JAK3 gene, which causes severe combined immunodeficiency. This animal model lacks the JAK3 gene specifically and does not have certain immune system components like thymus, lymphocytes, and peyer's patches. The model can be used for studying the effects of JAK3 gene mutation and as a treatment model for patients with JAK3 SCID. It can also be used for artificial blood development and xenotransplantation.

• Animal model with JAK3 gene mutation causing severe combined immunodeficiency
• Specific deficiency of JAK3 gene in the model
• Regulation of cytokine expression by controlling macrophage number and activity
• Lacks thymus, lymphocytes, and peyer's patches observed in conventional animal models
• Similar phenotypes to human severe combined immunodeficiency caused by JAK3 gene mutation
• Potential use as a treatment model for JAK3 SCID patients
• Potential use for artificial blood development and xenotransplantation

Potential Applications

• Studying the effects of JAK3 gene mutation
• Treatment model for JAK3 SCID patients
• Artificial blood development
• Xenotransplantation

Problems Solved

• Lack of suitable animal models for studying JAK3 gene mutation and severe combined immunodeficiency
• Limited understanding of the effects of JAK3 gene mutation on immune system components
• Limited treatment models for JAK3 SCID patients
• Need for animal models for artificial blood development and xenotransplantation research

Benefits

• Improved understanding of JAK3 gene mutation and severe combined immunodeficiency
• Better treatment options for JAK3 SCID patients
• Advancement in artificial blood development
• Enhanced research in xenotransplantation

Original Abstract Submitted

the present disclosure relates to a jak3 gene-mutated severe combined immunodeficiency animal model and a method of constructing the same. in the jak3 gene-mutated severe combined immunodeficiency animal model of the present disclosure, the jak3 gene is specifically deficient, the expression of cytokines is regulated by controlling the number and activity of macrophages, and the thymus, lymphocytes, and peyer's patches, which are observed in conventional severe combined immunodeficiency animal models, particularly mini-pigs, are completely lacking. in addition, the animal model of the present disclosure can be used as a treatment model for jak3 scid patients, as similar phenotypes are observed in patients with human severe combined immunodeficiency caused by a jak3 gene mutation, and can be used for artificial blood development or xenotransplantation.