The ﬁsh deﬁcient in ZMPSTE24 was isolated from the TILLING
mutant medaka library, and has nonsense mutation (Y79X) in exon 7.
The loss of ZMPSTE24 protease results in the accumulation of farnesylated prelamin in the nucleus and causes various diseases, including Hutchinson-Gilford progeria syndrome (HGPS). The mutants show normal lifespan (premature aging in other species), and radiosensitivity.
|Special affairs [Address]||
■ The RECIPIENT shall refer the following publication in any PUBLICATIONS.
(Name of the Publication: TONOYAMA, Yasuhiro, et al. Abnormal nuclear morphology is independent of longevity in a zmpste24-deficient fish model of Hutchinson-Gilford progeria syndrome (HGPS). Comparative Biochemistry and Physiology Part C: Toxicology & Pharmacology, 2018, 209: 54-62.)
|Category||Mutants created by TILLING|
|Organization||National Institute for Basic Biology|
|Frozen sperm in NIBB||○|
|Deposited by||Kyorin University|
|Document (PDF)||Genotyping protocol_MT1222_zmpste24(Y79X)|