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1. WO2020004640 - TRANSGENIC ANIMAL HAVING MUTATION INTRODUCED INTO CREBBP GENE THEREIN

Publication Number WO/2020/004640
Publication Date 02.01.2020
International Application No. PCT/JP2019/025902
International Filing Date 28.06.2019
IPC
C CHEMISTRY; METALLURGY
12
BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
N
MICRO-ORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICRO-ORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
15
Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
09
Recombinant DNA-technology
11
DNA or RNA fragments; Modified forms thereof
52
Genes encoding for enzymes or proenzymes
54
Transferases (2)
A HUMAN NECESSITIES
01
AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
K
ANIMAL HUSBANDRY; CARE OF BIRDS, FISHES, INSECTS; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
67
Rearing or breeding animals, not otherwise provided for; New breeds of animals
027
New breeds of vertebrates
C CHEMISTRY; METALLURGY
12
BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
N
MICRO-ORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICRO-ORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
9
Enzymes, e.g. ligases (6.); Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating, or purifying enzymes
10
Transferases (2.)
[IPC code unknown for C12Q 1/6869]
C12N 15/54 (2006.01)
A01K 67/027 (2006.01)
C12N 9/10 (2006.01)
C12Q 1/6869 (2018.01)
CPC
A01K 67/027
C12N 9/10
C12Q 1/6869
Applicants
  • 学校法人 久留米大学 KURUME UNIVERSITY [JP/JP]; 福岡県久留米市旭町67番地 67, Asahi-machi, Kurume-shi, Fukuoka 8300011, JP
Inventors
  • 佐藤 貴弘 SATO, Takahiro; JP
  • 児島 将康 KOJIMA, Masayasu; JP
  • 大石 佳苗 OISHI, Kanae; JP
Agents
  • 山尾 憲人 YAMAO, Norihito; JP
  • 櫻井 陽子 SAKURAI, Yoko; JP
Priority Data
2018-12466629.06.2018JP
Publication Language Japanese (JA)
Filing Language Japanese (JA)
Designated States
Title
(EN) TRANSGENIC ANIMAL HAVING MUTATION INTRODUCED INTO CREBBP GENE THEREIN
(FR) ANIMAL TRANSGÉNIQUE AYANT UNE MUTATION INTRODUITE DANS LE GÈNE CREBBP À L’INTÉRIEUR DE CE DERNIER
(JA) CREBBP遺伝子に変異を導入された遺伝子改変動物
Abstract
(EN)
Provided is a non-human transgenic animal in which a mutation is introduced into at least one of CREBBP gene loci, so that CREBBP gene can encode mutant CREBBP that comprises an amino acid sequence having at least 90% identity to the amino acid sequence represented by SEQ ID NO: 5. Also provided is a method for producing the transgenic animal, comprising introducing a mutation into at least one of CREBBP gene loci in a non-human animal. Still also provided is a use of the transgenic animal as a model for Rubinstein-Taybi syndrome or a model for advanced sleep phase syndrome.
(FR)
La présente invention concerne un animal transgénique non humain dans lequel une mutation est introduite dans au moins l’un des loci du gène CREBBP, de sorte que le gène CREBBP peut coder pour un CREBBP mutant qui comprend une séquence d’acides aminés ayant au moins 90 % d'identité vis-à-vis de la séquence d’acides aminés représentée par SEQ ID no : 5. L’invention concerne également un procédé de production de l’animal transgénique, comprenant l’introduction d’une mutation dans au moins l’un des loci du gène CREBBP dans un animal non humain. L’invention concerne encore également une utilisation de l’animal transgénique comme modèle du syndrome de Rubinstein-Taybi ou comme modèle pour le syndrome de phase de sommeil avancé.
(JA)
少なくとも1つのCREBBP遺伝子座に変異が導入されている非ヒト遺伝子改変動物であって、当該変異により、CREBBP遺伝子が、配列番号5のアミノ酸配列と90%以上の同一性を有するアミノ酸配列からなる変異型CREBBPをコードしている、非ヒト遺伝子改変動物を提供する。また、非ヒト動物の少なくとも1つのCREBBP遺伝子座に変異を導入することを含む、上記遺伝子改変動物の製造方法を提供する。さらに、上記遺伝子改変動物の、ルビンシュタイン・テイビ症候群のモデルまたは睡眠相前進症候群のモデルとしての使用を提供する。
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