U.S. Department of Health and Human Services

Genetics of Development and Disease Branch

Richard L. Proia, Ph.D., Chief

​Resources

Patents, materials, and other research resources appear below. Some resources may be available for use through Material Transfer Agreements (MTAs) or licensing agreements.

Resource Name Description
Methods and pharmaceutical compositions for inhibiting tumour cell growth (U.S. Patent Application Number WO 1998025598 A2)

Methods for inhibiting proliferation of a PPARη-responsive hyperproliferative cell using PPARη agonists are described. Pharmaceutical compositions as well as methods for diagnosing and treating a PPARη-responsive hyperproliferative cell are also…

Smad4 LoxP Mouse (Mutant Mouse: Smad4)

Smad4 conditional KO.  Inactivation of LoxP-flanked Smad 4 makes it possible to explore the role of Smad 4 in embryonic development of different tissues and in tumorigenesis.

Members of the TGF-b superfamily (which includes Bone Morphogenic Protein…

FGFR2 knockout is an embryonic lethal mutation and blocks limb bud initiation. (Mutant Mouse: Fgfr2 KO (Fgfr2 tm1Cxd) Mouse)

FGFR2 knockout is an embryonic lethal mutation and blocks limb bud initiation.

Fibroblast Growth Factor Receptor 2 (FGFR2) is a high affinity receptor for several members of the FGF family.  The FGFR2 gene was inactivated by deleting the entire…

Smad4 KO (Smad4 tm1Cxd) Mouse (Mutant Mouse: Smad4)

Smad4 knockout: Smad 4 is essential for epiblast proliferation and mesoderm induction in early embryogenesis.

The TGF-β-related superfamily plays an important role in multiple biological systems including embryogenesis.  TGF-β ligands activate…

Sirt1 LoxP (Sirt1 tm1Cxd) Mouse (Mutant Mouse: Sirt1)

Generation of floxed Sirtuin 1 Exon5-Exon6 for the construction of conditional knockout mice

Sirtuin 1 (Sirt1), a homolog of yeast Sir 2, is an NAD-dependent histone and protein deacetylase.  It has a wide range of biological functions, ranging from…

Sirt6 LoxP (Sirt6 tm1.1Cxd) Mouse (Mutant Mouse: Sirt6)

Generation of floxed Sirtuin 6 for the construction of conditional knockout mice

The Sirtuins (Sirt1-7), a family of seven proteins related to yeast Sir2, are histone deacetylases that regulate many critical biological processes including genomic…

Smad3 KO (Smad3 tm1Cxd) Mouse (Mutant Mouse: Smad3 (MAD homolog 3 (Drosophila)))

Smad 3 knockout: Increased susceptibility to opportunistic infections and massive abscesses result from impaired TGF-β-mediated regulation of T cell activation and mucosal immunity.

Smad3 is one of the intracellular mediators that transduce signals…

Brca1(Brca1tm1Cxd) Mouse (Mutant Mouse: Brca1 (Breast cancer1))

Knockout of the BRCA1 (Breast Cancer 1) gene impairs DNA damage repair resulting in embryonic death.

Germ-line mutations of the nuclear protein BRCA1 are responsible for increased susceptibility to familial breast and ovarian cancers.  Targeted…

Brca1 LoxP Mouse (Mutant Mouse: Brca1 (Breast cancer1))

BRCA1 conditional knockouts.  BRCA1 LoxP mutations allow selective inactivation of the gene in mammary epithelial cells (accelerating breast tumor formation) and in cardiomyocytes (impairing cardiac remodeling that may increase the risk of heart…

Sirt1 KO (Sirt1 tm1.1Cxd) Mouse (Mutant Mouse: Sirt1 (sirtuin 1 (silent mating type information regulation 2, homolog) 1 (S. cerevisiae))

Sirt1 knockout: Sirt1, a protein deacetylase, is a tumor suppressor that promotes genome stability and regulates proteins involved in energy metabolism.

Yeast Sir2, a nicotinamide adenine dinucleotide (NAD)-dependent protein deacetylase, has been…

Sirt3 KO (Sirt3 tm1.1Cxd) Mouse (Mutant Mouse: Sirt3)

Sirt3 KO: Sirt3 is a mitochondrial-localized tumor suppressor that maintains mitochondrial integrity and metabolism during stress.

SirT3 is a mitochondrial protein that is a member of the Sirtuin family of NAD-dependent protein deacetylases…

Fgfr1 LoxP Mouse (Mutant Mouse: Fgfr1 (Fibroblast Growth Factor Receptor 1))

FGFR1 conditional knockouts.  Inactivation of FGFR1 LoxP in limb mesenchyme early in embryogenesis shows that FGFR1 is indispensable for normal limb development.

Fibroblast Growth Factor Receptor 1 (FGFR1) is primarily expressed in the mesenchyme of…

Fgfr4 KO Mouse (Mutant Mouse: Fgfr4)

FGFR4 knockout: Lung alveoli fail to develop normally in double mutant with FGFR4 and FGFR3 knockouts.

The Fibroblast Growth Factor Receptor (FGFR) 4 gene was inactivated by targeted disruption and homozygous recombination to study its possible role…

S1pr1 KO (S1pr1 tm1Rlp) Mouse (Mutant Mouse: S1pr1 (spingosine-1-phosphate receptor 1))

A Sphingosine-1-phosphate Receptor-1 (S1pr1) knockout mouse

Sphingosine-1-phosphate (S1P) is a potent bioactive lipid that activates a family of G-protein coupled receptors, S1P1, S1P2, S1P3, S1P4 and S1P5. The S1P1 receptor is widely expressed and…

S1pr2 KO Mouse (Mutant Mouse: S1pr2)

A Spingosine-1-phosphate Receptor-2 (S1pr2) knockout mouse.

Sphingosine-1-phosphate (S1P), a sphingolipid metabolite, activates cell signaling by interacting with a family of G-protein-coupled cell-surface S1P receptors that activate different and…

S1pr3 KO Mouse (Mutant Mouse: s1pr3)

A Spingosine-1-phosphate Receptor-3 (S1pr3) knockout mouse.

Sphingosine-1-phosphate (S1P), a sphingolipid metabolite, activates cell signaling by interacting with a family of G-protein-coupled cell-surface S1P receptors that activate different and…

Sphk1 KO Mouse (Mutant Mouse: Sphk1 (Sphingosine kinase 1))

A Sphingosine kinase 1 (Sphk1) knockout mouse.

Sphingosine kinase 1 and 2 are enzymes that produce sphingosine-1-phosphate (S1P), a potent bioactive compound that activates a family of G-protein coupled receptors known as S1P receptors.  Triggering…

S1pr1 LoxP (S1pr1 tm2Rlp) Mouse (Mutant Mouse: S1pr1)

A conditional knockout mouse for S1pr1

Sphingosine-1-phosphate (S1P) is a potent bioactive lipid that activates a family of G-protein coupled receptors, S1P1, S1P2, S1P3, S1P4 and S1P5. The S1P1 receptor is widely expressed and has critical functions…

Gaucher Gba-444 knock-in(Gba tm2Rlp) Mouse (Mutant Mouse: Gba (glucosidase, beta, acid).Knock-in P444L ±A456P mimic Gaucher disease.)

Gba-444 knock-in mice carrying the milder L444P Gaucher disease mutation (Gba-L444P mice) and the severe Gaucher disease mutation (Gba-L444P A456P mice).

Gba-L444P and Gba-L444P A456P mice, respectively, carry common gene mutations for milder or…

Sphk2 KO Mouse (Mutant Mouse: Sphk2 (Sphingosine Kinase 2))

A knockout mouse for Sphingosine kinase 2 (Sphk2).

Sphingosine kinase 1 and 2 are enzymes that produce sphingosine-1-phosphate (S1P), a potent bioactive compound that activates a family of G-protein coupled receptors known as S1P receptors…

Fgfr3 KO Mouse (Mutant Mouse: Fgfr3)

FGFR3 knockout. Complete knockout of the FGFR3 gene, the gene in which missense mutants cause short statue achrondorplasia, fails to restrain cartilage growth at the bone growth plate, allowing bones to elongate excessively but fail to ossify.

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Clinical Trials

Open studies conducted by NIDDK Principal Investigators appear below that are currently recruiting, not yet recruiting, or available for expanded access.

Study Title
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Search for more clinical trials at ClinicalTrials.gov