SG11201901305YA - Mice comprising mutations resulting in expression of c-truncated fibrillin-1 - Google Patents
Mice comprising mutations resulting in expression of c-truncated fibrillin-1Info
- Publication number
- SG11201901305YA SG11201901305YA SG11201901305YA SG11201901305YA SG11201901305YA SG 11201901305Y A SG11201901305Y A SG 11201901305YA SG 11201901305Y A SG11201901305Y A SG 11201901305YA SG 11201901305Y A SG11201901305Y A SG 11201901305YA SG 11201901305Y A SG11201901305Y A SG 11201901305YA
- Authority
- SG
- Singapore
- Prior art keywords
- tarrytown
- international
- regeneron
- npscl
- saw mill
- Prior art date
Links
- 102000005867 Fibrillin-1 Human genes 0.000 title abstract 3
- 108010030229 Fibrillin-1 Proteins 0.000 title abstract 3
- 230000035772 mutation Effects 0.000 title abstract 3
- 241000699670 Mus sp. Species 0.000 title abstract 2
- 241000699666 Mus <mouse, genus> Species 0.000 abstract 2
- 239000003795 chemical substances by application Substances 0.000 abstract 2
- 150000001875 compounds Chemical class 0.000 abstract 2
- 239000003814 drug Substances 0.000 abstract 2
- 230000000694 effects Effects 0.000 abstract 2
- 238000012216 screening Methods 0.000 abstract 2
- 108700028369 Alleles Proteins 0.000 abstract 1
- 206010053547 Congenital generalised lipodystrophy Diseases 0.000 abstract 1
- 208000031037 Wiedemann-Rautenstrauch syndrome Diseases 0.000 abstract 1
- 150000001413 amino acids Chemical class 0.000 abstract 1
- 238000010171 animal model Methods 0.000 abstract 1
- 230000003090 exacerbative effect Effects 0.000 abstract 1
- 230000002401 inhibitory effect Effects 0.000 abstract 1
- 238000000034 method Methods 0.000 abstract 1
- 239000002773 nucleotide Substances 0.000 abstract 1
- 125000003729 nucleotide group Chemical group 0.000 abstract 1
- 230000008520 organization Effects 0.000 abstract 1
- 230000001737 promoting effect Effects 0.000 abstract 1
- 108090000623 proteins and genes Proteins 0.000 abstract 1
- 208000024891 symptom Diseases 0.000 abstract 1
- 230000001225 therapeutic effect Effects 0.000 abstract 1
Classifications
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- A—HUMAN NECESSITIES
- A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
- A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
- A01K67/00—Rearing or breeding animals, not otherwise provided for; New or modified breeds of animals
- A01K67/027—New or modified breeds of vertebrates
- A01K67/0275—Genetically modified vertebrates, e.g. transgenic
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K49/00—Preparations for testing in vivo
- A61K49/0004—Screening or testing of compounds for diagnosis of disorders, assessment of conditions, e.g. renal clearance, gastric emptying, testing for diabetes, allergy, rheuma, pancreas functions
- A61K49/0008—Screening agents using (non-human) animal models or transgenic animal models or chimeric hosts, e.g. Alzheimer disease animal model, transgenic model for heart failure
-
- C—CHEMISTRY; METALLURGY
- C07—ORGANIC CHEMISTRY
- C07K—PEPTIDES
- C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
- C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
- C07K14/78—Connective tissue peptides, e.g. collagen, elastin, laminin, fibronectin, vitronectin or cold insoluble globulin [CIG]
-
- A—HUMAN NECESSITIES
- A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
- A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
- A01K2217/00—Genetically modified animals
-
- A—HUMAN NECESSITIES
- A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
- A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
- A01K2217/00—Genetically modified animals
- A01K2217/05—Animals comprising random inserted nucleic acids (transgenic)
- A01K2217/054—Animals comprising random inserted nucleic acids (transgenic) inducing loss of function
- A01K2217/056—Animals comprising random inserted nucleic acids (transgenic) inducing loss of function due to mutation of coding region of the transgene (dominant negative)
-
- A—HUMAN NECESSITIES
- A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
- A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
- A01K2227/00—Animals characterised by species
- A01K2227/10—Mammal
- A01K2227/105—Murine
-
- A—HUMAN NECESSITIES
- A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
- A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
- A01K2267/00—Animals characterised by purpose
- A01K2267/03—Animal model, e.g. for test or diseases
- A01K2267/0306—Animal model for genetic diseases
Landscapes
- Life Sciences & Earth Sciences (AREA)
- Health & Medical Sciences (AREA)
- Zoology (AREA)
- General Health & Medical Sciences (AREA)
- Environmental Sciences (AREA)
- Animal Behavior & Ethology (AREA)
- Engineering & Computer Science (AREA)
- Veterinary Medicine (AREA)
- Chemical & Material Sciences (AREA)
- Gastroenterology & Hepatology (AREA)
- Toxicology (AREA)
- Organic Chemistry (AREA)
- Biotechnology (AREA)
- Biodiversity & Conservation Biology (AREA)
- Animal Husbandry (AREA)
- Endocrinology (AREA)
- Biomedical Technology (AREA)
- Epidemiology (AREA)
- Pathology (AREA)
- Urology & Nephrology (AREA)
- Rheumatology (AREA)
- Public Health (AREA)
- Diabetes (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Molecular Biology (AREA)
- Medicinal Chemistry (AREA)
- Genetics & Genomics (AREA)
- Biophysics (AREA)
- Biochemistry (AREA)
- Micro-Organisms Or Cultivation Processes Thereof (AREA)
- Investigating Or Analysing Biological Materials (AREA)
- Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
Abstract
INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property C.--.` 41111111111HDEIREEMODIEENEEDEIIIIMMEMIE Organization International Bureau (10) International Publication Number (43) International Publication Date .../- WO 2018/023014 Al 01 February 2018 (01.02.2018) WIP0 I PCT (51) International Patent Classification: MADA, Jesper; c/o Regeneron Pharmaceuticals, Inc., 777 A01K 67/027 (2006.01) Old Saw Mill River Road, Tarrytown, NY 10591 (US). (21) ECONOMIDES, Aris, N.; c/o Regeneron Pharmaceuti- International Application Number: PCT/US2017/044409 cals, Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591 (US). (22) International Filing Date: (74) Agent: SCHILLING, Stephen, H. et al.; Alston & Bird 28 July 2017 (28.07.2017) LLP, Bank of America Plaza, 101 South Tryon Street, Suite (25) Filing Language: English 4000, Charlotte, NC 28280-4000 (US). (26) Publication Language: English (81) Designated States (unless otherwise indicated, for every kind of national protection available): AE, AG, AL, AM, (30) Priority Data: AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, BZ, 62/368,924 29 July 2016 (29.07.2016) US CA, CH, CL, CN, CO, CR, CU, CZ, DE, DJ, DK, DM, DO, (71) Applicant: REGENERON PHARMACEUTICALS, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, INC. [US/US]; 777 Old Saw Mill River Road, Tarrytown, HR, HU, ID, IL, IN, IR, IS, JO, JP, KE, KG, KH, KN, KP, NY 10591-6707 (US). KR, KW, KZ, LA, LC, LK, LR, LS, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, (72) Inventors: HUNT, Charleen; c/o Regeneron Pharmaceu-OM, PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, ticals, Inc., 777 Old Saw Mill River Road, Tarrytown, NY SC, SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, 10591 (US). MASTAITIS, Jason; c/o Regeneron Pharma-TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW. — ceuticals, Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591 (US). GONG, Guochun; c/o Regeneron Phar- (84) Designated States (unless otherwise indicated, for every maceuticals, Inc., 777 Old Saw Mill River Road, Tarry- kind of regional protection available): ARIPO (BW, GH, = town, NY 10591 (US). LAI, Ka-Man Venus; 127 West GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, TZ, Main Street, Unit 201, Tarrytown, NY 10591 (US). GRO- UG, ZM, ZW), Eurasian (AM, AZ, BY, KG, KZ, RU, TJ, = = (54) Title: MICE COMPRISING MUTATIONS RESULTING IN EXPRESSION OF C-TRUNCATED FIBRILLIN-1 = = Sequence SEQ = = FibrillIn-1 Alleles (Nucleotide ID Amino Acid) NO Human WT ...GAGTGTAAGATCAATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCACAAACGAAACT,.. ...ECK I N G Y P K R G R K RR S T N E T... 9 10 = — = Human Variant • ...GAGTGTGATCAATGGCTACCCCAAACGGGGCAGGAAACGGAGAAGCAC.AAACGAAACTGA... 11 = ...ECDQWLPQ T G Q E T E K HK RN* 12 13 14 Mouse WT ...CAGTCTAAGATCAACGCCTACCCAAMCGAGGCCGGAPACGGAGAAGCACGAACGAAACG... — — — — -, G = = ...ECK I N YPK , P/G/RKRR/S T j j NE 7 ... Engineered Mouse Vanant GAGTGTGATCAATGGCTACCCCGGGGCAGGAAACGGAGAAGCACAAACGAAACTGA_ .,. CAAA 15 = _ = MAID 8502 TT HRN* 16 I _ = — MAID 8520 PPASSEMDDN SLS PEACYEC I KINGYPKAAQ SHLPATRPET EKHERNGCLR HPGRV 1 I i 17 Expected , I 1 i MAID 8502 PPASSEMDDN SLSPEACYEC:DQWLPQTGQE TEKHKRN ] 18 — 1-1 FIG. 3 iv 1-1 0 en (57) : Provided are non-human animals comprising a mutation in the Fbnl gene to model neonatal progeroid syndrome with el c:::: , congenital lipodystrophy (NPSCL). Also provided are methods of making such non-human animal models. The non-human animal -- --- GC models can be used for screening compounds for activity in inhibiting or reducing NPSCL or ameliorating NPSCL- like symptoms , 1 or screening compounds for activity potentially harmful in promoting or exacerbating NPSCL as well as to provide insights in to the 0 mechanism of NPSCL and potentially new therapeutic and diagnostic targets. N O [Continued on next page] WO 2018/023014 Al MIDEDIMOMOIDEIREIO I 0 101101 0111111MMHEMOVOIS TM), European (AL, AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, LV, MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, SM, TR), OAPI (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG). Declarations under Rule 4.17: — as to the identity of the inventor (Rule 4.170) — as to the applicant's entitlement to claim the priority of he earlier application (Rule 4.17(iii)) Published: — with international search report (Art. 21(3)) — with sequence listing part of description (Rule 5.2(a))
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201662368924P | 2016-07-29 | 2016-07-29 | |
| PCT/US2017/044409 WO2018023014A1 (en) | 2016-07-29 | 2017-07-28 | Mice comprising mutations resulting in expression of c-truncated fibrillin-1 |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| SG11201901305YA true SG11201901305YA (en) | 2019-03-28 |
Family
ID=59656182
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| SG11201901305YA SG11201901305YA (en) | 2016-07-29 | 2017-07-28 | Mice comprising mutations resulting in expression of c-truncated fibrillin-1 |
Country Status (14)
| Country | Link |
|---|---|
| US (2) | US10548302B2 (en) |
| EP (1) | EP3490373B1 (en) |
| JP (1) | JP2019523009A (en) |
| KR (1) | KR20190041476A (en) |
| CN (1) | CN109803530A (en) |
| AU (1) | AU2017302657A1 (en) |
| BR (1) | BR112019001783A2 (en) |
| CA (1) | CA3031206A1 (en) |
| ES (1) | ES2965134T3 (en) |
| IL (1) | IL264434A (en) |
| MX (1) | MX2019001211A (en) |
| RU (1) | RU2721125C1 (en) |
| SG (1) | SG11201901305YA (en) |
| WO (1) | WO2018023014A1 (en) |
Families Citing this family (6)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| EP3490373B1 (en) | 2016-07-29 | 2023-10-25 | Regeneron Pharmaceuticals, Inc. | Mice comprising mutations resulting in expression of c-truncated fibrillin-1 |
| CN109486944A (en) * | 2018-12-27 | 2019-03-19 | 中国医学科学院北京协和医院 | Application of the gene mutation as diagnosis MPLS marker |
| US11895994B2 (en) | 2019-10-27 | 2024-02-13 | Shanghai Raas Blood Products Co., Ltd. | Humanized knock-in mouse expressing human Protein C |
| CN111296364B (en) * | 2019-10-27 | 2022-06-24 | 上海莱士血液制品股份有限公司 | Gene modification method for mouse animal model and application thereof |
| AU2019473345A1 (en) * | 2019-11-05 | 2022-05-05 | Versiti Blood Research Institute Foundation, Inc. | A murine model of fetal/neonatal alloimmune thrombocytopenia |
| KR102356676B1 (en) * | 2020-12-10 | 2022-02-07 | 서울대학교 산학협력단 | Biomarkers for diagnosis of pancreatic cancer comprising asprosin, and use thereof |
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| PT3155099T (en) | 2014-06-23 | 2018-04-20 | Regeneron Pharma | Nuclease-mediated dna assembly |
| MX2016017317A (en) | 2014-06-26 | 2017-08-24 | Regeneron Pharma | Methods and compositions for targeted genetic modifications and methods of use. |
| US11254933B2 (en) | 2014-07-14 | 2022-02-22 | The Regents Of The University Of California | CRISPR/Cas transcriptional modulation |
| KR102531016B1 (en) | 2014-11-21 | 2023-05-10 | 리제너론 파마슈티칼스 인코포레이티드 | METHODS AND COMPOSITIONS FOR TARGETED GENETIC MODIFICATION USING PAIRED GUIDE RNAs |
| EP3490373B1 (en) | 2016-07-29 | 2023-10-25 | Regeneron Pharmaceuticals, Inc. | Mice comprising mutations resulting in expression of c-truncated fibrillin-1 |
-
2017
- 2017-07-28 EP EP17754528.2A patent/EP3490373B1/en active Active
- 2017-07-28 KR KR1020197005701A patent/KR20190041476A/en not_active Application Discontinuation
- 2017-07-28 AU AU2017302657A patent/AU2017302657A1/en not_active Abandoned
- 2017-07-28 MX MX2019001211A patent/MX2019001211A/en unknown
- 2017-07-28 BR BR112019001783-6A patent/BR112019001783A2/en not_active Application Discontinuation
- 2017-07-28 ES ES17754528T patent/ES2965134T3/en active Active
- 2017-07-28 JP JP2019504976A patent/JP2019523009A/en not_active Ceased
- 2017-07-28 US US15/663,410 patent/US10548302B2/en active Active
- 2017-07-28 WO PCT/US2017/044409 patent/WO2018023014A1/en unknown
- 2017-07-28 CA CA3031206A patent/CA3031206A1/en not_active Abandoned
- 2017-07-28 CN CN201780058672.XA patent/CN109803530A/en active Pending
- 2017-07-28 RU RU2019105783A patent/RU2721125C1/en active
- 2017-07-28 SG SG11201901305YA patent/SG11201901305YA/en unknown
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2019
- 2019-01-23 IL IL264434A patent/IL264434A/en unknown
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Also Published As
| Publication number | Publication date |
|---|---|
| EP3490373C0 (en) | 2023-10-25 |
| EP3490373B1 (en) | 2023-10-25 |
| US20180027782A1 (en) | 2018-02-01 |
| US10548302B2 (en) | 2020-02-04 |
| JP2019523009A (en) | 2019-08-22 |
| ES2965134T3 (en) | 2024-04-11 |
| KR20190041476A (en) | 2019-04-22 |
| EP3490373A1 (en) | 2019-06-05 |
| CA3031206A1 (en) | 2018-02-01 |
| BR112019001783A2 (en) | 2019-05-07 |
| CN109803530A (en) | 2019-05-24 |
| MX2019001211A (en) | 2019-09-16 |
| WO2018023014A1 (en) | 2018-02-01 |
| US11730150B2 (en) | 2023-08-22 |
| RU2721125C1 (en) | 2020-05-18 |
| AU2017302657A1 (en) | 2019-02-14 |
| US20200107527A1 (en) | 2020-04-09 |
| IL264434A (en) | 2019-02-28 |
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