• TMPRSS6 is a gene that encodes a membrane-bound protein primarily involved in iron metabolism. Its expression is closely linked to the regulation of iron levels in the body and the physiological processes associated with iron overload. Modulating the expression of TMPRSS6 to enhance the expression of HAMP could become an important clinical goal for improving the management of patients with thalassemia. HAMP plays a critical role in regulating the absorption and storage of iron. Therefore, increasing the expression of HAMP is expected to improve the iron balance in patients and promote more effective iron metabolism.
• Gene editing strategy: The full coding sequences of human TMPRSS6 gene that is driven by Alb promoter are inserted into mouse Hipp11 (H11) locus in B-hTMPRSS6 mice.
• mRNA expression analysis: Mouse Tmprss6 mRNA was detectable in wild-type C57BL/6JNifdc mice. Human TMPRS6 mRNA was detectable only in heterozygous B-hTMPRSS6 mice, but not in wild-type C57BL/6JNifdc mice.
• Protein expression analysis: TMPRSS6 was detectable in liver, kidney, lung, spleen and brain of wild-type C57BL/6JNifdc mice and homozygous B-hTMPRSS6 mice, as the antibody cross-recognize both human and mouse TMPRSS6.
• Application: This product is used for pharmacodynamics evaluation of iron accumulation and thalassemia.

Gene targeting strategy for B-hTMPRSS6 mice. The full coding sequences of human TMPRSS6 gene that is driven by Alb promoter are inserted into mouse Hipp11 (H11) locus in B-hTMPRSS6 mice.

Strain specific analysis of TMPRSS6 mRNA expression in wild-type C57BL/6JNifdc mice and B-hTMPRSS6 mice by RT-PCR. Liver RNA was isolated from wild-type C57BL/6JNifdc mice (+/+) and homozygous B-hTMPRSS6 mice (H/H). Mouse Tmprss6 mRNA was detectable in wild-type C57BL/6JNifdc mice and homozygous B-hTMPRSS6 mice. Human TMPRSS6 mRNA was detectable only in homozygous B-hTMPRSS6 mice, but not in wild-type C57BL/6JNifdc mice.

Strain specific TMPRSS6 expression analysis in homozygous humanized B-hTMPRSS6 mice by western blot. Liver, kidney, spleen, lung and brain were collected from wild-type C57BL/6JNifdc mice (+/+) and homozygous B-hTMPRSS6 mice (H/H) and analyzed by western blot with anti-TMPRSS6 antibody(Abcam, ab56180). TMPRSS6 was detectable in liver, kidney, lung, spleen and brain of wild-type C57BL/6JNifdc mice and homozygous B-hTMPRSS6 mice, as the antibody cross-recognize both human and mouse TMPRSS6.