# US 12,108,746 B2 · Transgenic animal having CREBBP gene into which mutation has been introduced

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- Number: US 12,108,746 B2
- Document ID: US12108746B2
- Status: Granted
- Kind: B2
- Application number: 17/255,688
- Filed: 2019-06-28
- Published: 2021-08-19
- Granted: 2024-10-08
- Earliest claimed: 2018-06-29
- Assignees: Kurume University
- Applicants: Kurume University
- Inventors: Takahiro Sato; Masayasu Kojima; Kanae Oishi
- Web page: https://patentgrep.com/patent/US12108746B2

## CPC

- A01K 67/0275: Genetically modified vertebrates, e.g. transgenic
- A01K 67/0276: Knock-out vertebrates
- C12N 9/10: Transferases (2.) (ribonucleases C12N9/22)
- C12N 9/1029: {transferring groups other than amino-acyl groups (2.3.1)}
- C12Q 1/6883: for diseases caused by alterations of genetic material
- A01K 2217/05: Animals comprising random inserted nucleic acids (transgenic)
- A01K 2217/072: maintaining or altering function, i.e. knock in
- A01K 2227/105: Murine
- A01K 2267/0306: Animal model for genetic diseases
- C12Q 2600/156: Polymorphic or mutational markers
- A01K: ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
- C12N: MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA (microbiological testing media C12Q1/00)
- C12Q: MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS (immunoassay G01N33/53); COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES

## Abstract

The disclosure provides a non-human transgenic animal having at least one CREBBP gene locus into which a mutation has been introduced, wherein the mutated CREBBP gene encodes a mutant CREBBP consisting of an amino acid sequence having at least 90% identity with the amino acid sequence of SEQ ID NO: 5. The disclosure also provides a method of producing the transgenic animal comprising introducing a mutation into at least one CREBBP gene locus of a non-human animal. The disclosure further provides use of the transgenic animal as a model of Rubinstein-Taybi syndrome or advanced sleep phase syndrome.

## Claims

### Claim 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.

### Claim 2 (depends on 1)

The transgenic mouse according to claim 1, wherein the CREBBP gene comprises a nucleotide sequence that has at least 90% identity with the nucleotide sequence of SEQ ID NO: 1 and lacks a nucleotide corresponding to position 1123 of SEQ ID NO: 1.

### Claim 3 (depends on 1)

The transgenic mouse according to claim 1, wherein the CREBBP gene comprises the nucleotide sequence of SEQ ID NO: 7.