US 12,108,746 B2
Transgenic animal having CREBBP gene into which mutation has been introduced
Takahiro Sato, Kurume (JP); Masayasu Kojima, Kurume (JP); and Kanae Oishi, Kurume (JP)
Assigned to KURUME UNIVERSITY, Fukuoka (JP)
Appl. No. 17/255,688
Filed by KURUME UNIVERSITY, Fukuoka (JP)
PCT Filed Jun. 28, 2019, PCT No. PCT/JP2019/025902
§ 371(c)(1), (2) Date Dec. 23, 2020,
PCT Pub. No. WO2020/004640, PCT Pub. Date Jan. 2, 2020.
Claims priority of application No. 2018-124666 (JP), filed on Jun. 29, 2018.
Prior Publication US 2021/0251198 A1, Aug. 19, 2021
Int. Cl. A01K 67/0275 (2024.01); C12N 9/10 (2006.01); C12Q 1/6883 (2018.01)
CPC A01K 67/0275 (2013.01) [C12N 9/1029 (2013.01); C12Q 1/6883 (2013.01); A01K 2217/05 (2013.01); A01K 2227/105 (2013.01); A01K 2267/0306 (2013.01); C12Q 2600/156 (2013.01)] 3 Claims
 
1. A transgenic mouse having at least one cAMP response element-binding protein-binding protein (CREBBP) gene locus into which a mutation has been introduced and having small body size, hypertelorism, short dorsal nasal, and a gait abnormality, wherein the mutated CREBBP gene encodes a mutant CREBBP consisting of the amino acid sequence of SEQ ID NO: 5.