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Genetically Modified Animals in Endocrinology

The bibliographic list below represents the first of what we hope will be a useful service provided by Endocrine Reviews. We have attempted to compile a list of the primary references to null (knockout) mice for the genes of the nuclear receptor family. We have limited this first trial list to the papers that describe the initial creation of the null mouse for a particular gene. Although we have attempted to be complete, we realize that we probably have overlooked some appropriate entries. We invite our readers’ input for other suggestions or additions to this list.

With the realization that there are many transgenic mice and null mice for genes that are not specifically members of the nuclear receptor family but have associated or closely related functions, we intend to add to and expand this list with links to other such citations. We will be working with others in The Endocrine Society to provide a Web-based cumulative bibliography based on this beginning and the subsequent printed lists. This will be developed over the next months and will be accessed through The Endocrine Society central page and its gateway to other resources.

Please send your comments, suggestions, and offerings of other relevant citations to this e-mail address: ERKO{at}endo-society.org

Nuclear Hormone Receptors

	Androgen Receptors

Top Androgen Receptors Estrogen Receptors Glucocorticoid Receptors Orphan Receptors PPAR Progesterone Receptors Retinoid Receptors Thyroid Hormone Receptors Vitamin D Receptors

 
Tfm

Lyon MF, Hawkes SG 1970 X-linked gene for testicular feminization in the mouse. Nature 227:1217–1219[CrossRef][Medline]

	Estrogen Receptors

Top Androgen Receptors Estrogen Receptors Glucocorticoid Receptors Orphan Receptors PPAR Progesterone Receptors Retinoid Receptors Thyroid Hormone Receptors Vitamin D Receptors

 
Estrogen receptor- (ER)

Lubahn DB, Moyer JS, Golding TS, Couse JF, Korach KS, Smithies O 1993 Alteration of reproductive function but not prenatal sexual development after insertional disruption of the mouse estrogen receptor gene. Proc Natl Acad Sci USA 90:11162–11166[Abstract/Free Full Text]

Estrogen receptor-ß (ERß)

Krege JH, Hodgin JB, Couse JF, Enmark E, Warner M, Mahler JF, Sar M, Korach KS, Gustafsson JA, Smithies O 1998 Generation and reproductive phenotypes of mice lacking estrogen receptor ß. Proc Natl Acad Sci USA 95:15677–15682[Abstract/Free Full Text]

ß Estrogen receptor (ßERKO)

Couse JF, Hewitt SC, Bunch DO, Sar M, Walker VR, Davis BJ, Korach KS 1999 Postnatal sex reversal of the ovaries in mice lacking estrogen receptors and ß. Science 286:2328–2331[Abstract/Free Full Text]

	Glucocorticoid Receptors

Top Androgen Receptors Estrogen Receptors Glucocorticoid Receptors Orphan Receptors PPAR Progesterone Receptors Retinoid Receptors Thyroid Hormone Receptors Vitamin D Receptors

 
Glucocorticoid receptor (GR)

Cole TJ, Blendy JA, Monaghan AP, Krieglstein K, Schmid W, Aguzzi A, Fantuzzi G, Hummler E, Unsicker K, Schütz G 1995 Targeted disruption of the glucocorticoid receptor gene blocks adrenergic chromaffin cell development and severely retards lung maturation. Genes Dev 9:1608–1621[Abstract/Free Full Text]

Mineralocorticoid Receptors; Aldosterone Receptors MR

Berger S, Bleich M, Schmid W, Cole TJ, Peters J, Watanabe H, Kriz W, Warth R, Greger R, Schütz G 1998 Mineralocorticoid receptor knockout mice: pathophysiology of Na+ metabolism. Proc Natl Acad Sci USA 95:9424–9429[Abstract/Free Full Text]

	Orphan Receptors

Top Androgen Receptors Estrogen Receptors Glucocorticoid Receptors Orphan Receptors PPAR Progesterone Receptors Retinoid Receptors Thyroid Hormone Receptors Vitamin D Receptors

 
Ftz-F1

Luo X, Ikeda Y, Parker KL 1994 A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell 77:481–490[CrossRef][Medline]

SF-1-specific

Luo X, Ikeda Y, Schlosser DA, Parker KL 1995 Steroidogenic factor 1 is the essential transcript of the mouse Ftz-F1gene. Mol Endocrinol 9:1233–1239[Abstract/Free Full Text]

COUP-TFI l

Qiu Y, Pereira FA, DeMayo FJ, Lydon JP, Tsai SY, Tsai MJ 1997 Null mutation of mCOUP-TFI results in defects in morphogenesis of the glossopharyngeal ganglion, axonal projection, and arborization. Genes Dev 11:1925–1937[Abstract/Free Full Text]

Nurr1

Castillo SO, Baffi JS, Palkovits M, Goldstein DS, Kopin IJ, Witta J, Magnuson MA, Nikodem VM 1998 Dopamine biosynthesis is selectively abolished in substantia nigra/ventral tegmental area but not in hypothalamic neurons in mice with targeted disruption of the Nurr1 gene. Mol Cell Neurosci 11:36–46[CrossRef][Medline]

ROR

Steinmayr M, André E, Conquet F, Rondi-Reig L, Delyaye-Bouchard N, Auclair N, Daniel H, Crépel F, Mariani J, Sotelo C, Becker-André M 1998 staggerer Phenotype in retinoid-related orphan receptor -deficient mice. Proc Natl Acad Sci USA 95:3960–3965[Abstract/Free Full Text]

Dussault I, Fawcell D, Matthyssen A, Bader JA, Giguère V 1998 Orphan nuclear receptor ROR-deficient mice display the cerebellar defects of staggerer. Mech Dev 70:147–153[CrossRef][Medline]

Nur77 / NGFI-B

Zheng D, Butler LS, McNamara JO 1998 Kindling and associated mossy fibre sprouting are not affected in mice deficient of NGFI-A/NGFI-B genes. Neuroscience 83:251–258[CrossRef][Medline]

COUP-TFII

Pipaon C, Tsai SY, Tsai MJ 1999 COUP-TF upregulates NGFI-A gene expression through an Sp1 binding site. Mol Cell Biol 19:2734–2745[Abstract/Free Full Text]

	PPAR

Top Androgen Receptors Estrogen Receptors Glucocorticoid Receptors Orphan Receptors PPAR Progesterone Receptors Retinoid Receptors Thyroid Hormone Receptors Vitamin D Receptors

 
PPAR

Gonzalez FJ, Fernandez-Salguero P, Lee SS, Pineau T, Ward JM 1995 Xenobiotic receptor knockout mice. Toxicol Lett 82–83:117–121

	Progesterone Receptors

Top Androgen Receptors Estrogen Receptors Glucocorticoid Receptors Orphan Receptors PPAR Progesterone Receptors Retinoid Receptors Thyroid Hormone Receptors Vitamin D Receptors

 
PR

Lydon JP, DeMayo FJ, Funk CR, Mani SK, Hughes AR, Montgomery Jr CA, Shyamala G, Conneely OM, O’Malley BW 1995 Mice lacking progesterone receptor exhibit pleiotropic reproductive abnormalities. Genes Dev 9:2266–2278[Abstract/Free Full Text]

	Retinoid Receptors

Top Androgen Receptors Estrogen Receptors Glucocorticoid Receptors Orphan Receptors PPAR Progesterone Receptors Retinoid Receptors Thyroid Hormone Receptors Vitamin D Receptors

 
RAR

Lohnes D, Kastner P, Dierich A, Mark M, LeMeur M, Chambon P 1993 Function of retinoic acid receptor in the mouse. Cell 73:643–658[CrossRef][Medline]

RXRß

Kastner P, Grondona JM, Mark M, Gansmuller A, LeMeur M, Decimo D, Vonesch JL, Dollé P, Chambon P 1994 Genetic analysis of RXR developmental function: Convergence of RXR and RAR signaling pathways in heart and eye morphogenesis. Cell 78:987–1003[CrossRef][Medline]

RAR double mutant

Lohnes D, Mark M, Mendelsohn C, Dolle P, Dierich A, Gorry P, Gansmuller A, Chambon P 1994 Function of the retinoic acid receptors (RARs) during development (I). Craniofacial and skeletal abnormalities in RAR double mutants. Development 120:2723–2748[Abstract]

RXRß

Kastner P, Mark M, Leid M, Gansmuller A, Chin W, Grondona JM, Decimo D, Krezel W, Dierich A, Chambon P 1996 Abnormal spermatogenesis in RXR ß mutant mice. Genes Dev 10:80–92[Abstract/Free Full Text]

RAR & RXR

Mark M, Ghyselinck NB, Wendling O, Dupe V, Mascrez B, Kastner P, Chambon P 1999 A genetic dissection of the retinoid signaling pathway in the mouse. Proc Nutr Soc 58:609–613[Medline]

RXR 1 gene

Saga Y, Kobayashi M, Ohta H, Murai N, Nakai N, Oshima M, Taketo MM 1999 Impaired extrapyramidal function caused by the targeted disruption of retinoid X receptor RXR1 isoform. Genes Cells 4:219–228[Abstract]

RXRß

Wendling O, Chambon P, Mark M 1999 Retinoid X receptors are essential for early mouse development and placentogenesis. Proc Natl Acad Sci USA 96:547–551[Abstract/Free Full Text]

	Thyroid Hormone Receptors

Top Androgen Receptors Estrogen Receptors Glucocorticoid Receptors Orphan Receptors PPAR Progesterone Receptors Retinoid Receptors Thyroid Hormone Receptors Vitamin D Receptors

 
TRß

Forrest D, Hanebuth E, Smeyne RJ, Everds N, Stewart CL, Wehner JM, Curran T 1996 Recessive resistance to thyroid hormone in mice lacking thyroid hormone receptor ß: evidence for tissue-specific modulation of receptor function. EMBO J 15:3006–3015[Medline]

T3R

Fraichard A, Chassande O, Plateroti M, Roux JP, Trouillas J, Dehay C, Legrand C, Gauthier K, Kedinger M, Malaval L, Rousset B, Samarut J 1997 The T3R gene endocing a thyroid hormone receptor is essential for post-natal development and thyroid hormone production. EMBO J 16:4412–4420[CrossRef][Medline]

TR1

Wikström L, Johansson C, Saltó C, Barlow C, Campos-Barros A, Baas F, Forrest D, Thorén P, Vennström B 1998 Abnormal heart rate and body temperature in mice lacking thyroid hormone receptor 1. EMBO J 17:455–461[CrossRef][Medline]

TRß2

Abel ED, Boers ME, Pazos-Moura C, Moura E, Kaulbach H, Zakaria M, Lowell B, Radovick S, Liberman MC, Wondisford FC 1999 Divergent roles for thyroid hormone receptor beta isoforms in the endocrine axis and auditory system. J Clin Invest 104:291–300[Medline]

	Vitamin D Receptors

Top Androgen Receptors Estrogen Receptors Glucocorticoid Receptors Orphan Receptors PPAR Progesterone Receptors Retinoid Receptors Thyroid Hormone Receptors Vitamin D Receptors

 
VDR

Yoshizawa T, Handa Y, Uematsu Y, Takeda S, Sekine K, Yoshihara Y, Kawakami T, Arioka K, Sato H, Uchiyama Y, Masushige S, Fukamizu A, Matsumoto T, Kato S 1997 Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation. Nat Genet 16:391–396[CrossRef][Medline]

Vitamin D binding protein (DBP)

Safadi FF, Thronton P, Magiera H, Hollis BW, Gentile M, Haddad JG, Liebhaber SA, Cooke NE 1999 Osteopathy and resistance to vitamin D toxicity in mice null for vitamin D binding protein. J Clin Invest 103:239–251[Medline]

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