The molecular bases of spontaneous immunological mutations in the mouse and their homologous human diseases

Clinical Immunology

Volumn 101, Issue 2, 2001, Pages 113-129

  Joliat, Melissa J ^a   Shultz, Leonard D ^a  

^a JACKSON LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT;

AGAMMAGLOBULINEMIA; ALLELE; COMBINED IMMUNODEFICIENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DISORDER; HOMOZYGOSITY; HUMAN; IMMUNE DEFICIENCY; IMMUNE SYSTEM; LYMPHOPROLIFERATIVE DISEASE; MICROPHTHALMIA; NONHUMAN; NUDE MOUSE; OSTEOPOROSIS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SCID MOUSE;

EID: 0035188944     PISSN: 15216616     EISSN: None     Source Type: Journal    
DOI: 10.1006/clim.2001.5120     Document Type: Review

References (265)

1. Genetically determined murine models of immunodeficiency
2. A severe combined immunodeficiency mutation in the mouse
3. The SCID mouse mutant: Definition, characterization, and potential uses
4. Multiple defects in innate and adaptive immunologic function in NOD/LtSz-scid mice
5. Rearrangement of antigen receptor genes is defective in mice with severe combined immune deficiency
6. Strand breaks without DNA rearrangement in V(D)J recombination
7. The defect in murine severe combined immune deficiency: Joining of signal sequences but not coding segments in V(D)J recombination
8. The scid defect affects the final step of the immunoglobulin VDJ recombinase mechanism
9. Characterization of the DNA double strand break repair defect in scid mice
10. The scid mutation in mice causes a general defect in DNA repair
11. Scid mutation in mice confers hypersensitivity to ionizing radiation and a deficiency in DNA double-strand break repair
12. Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation
13. The DNA-dependent protein kinase
14. Equine severe combined immunodeficiency: A defect in V(D)J recombination and DNA-dependent protein kinase activity
15. SCID in Jack Russell terriers: A new animal model of DNA-PKcs deficiency
16. 'Nude', a new hairless gene with pleiotropic effects in the mouse
17. Absence of thymus in a mouse mutant
18. New member of the winged-helix protein family disrupted in mouse and rat nude mutations
19. Five years on the wings of fork head
20. Unified nomenclature for the winged helix/forkhead transcription factors
21. Spontaneous mutations - Streaker (nustr) and ichthyosis (icJ)
22. An athymic nude mutation in the rat
23. A new guinea pig mutant with abnormal hair production and immunodeficiency
24. Transplantation of human tumors in nude mice
25. The Syk tyrosine kinase suppresses malignant growth of human breast cancer cells
26. Induction of tumor lymphangiogenesis by VEGF-C promotes breast cancer metastasis
27. The 22q11 deletion syndromes
28. Congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs
29. Exposing the human nude phenotype
30. Exceptional inheritance of a sex-linked gene in the mouse explained on the basis that the X/O sex-chromosome constitution is female
31. X-linked lymphoreticular disease in the scurfy (sf) mutant mouse
32. Fatal lymphoreticular disease in the scurfy (sf) mouse requires T cells that mature in a sf thymic environment: Potential model for thymic education
33. The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome
34. Transplantation of T cell-mediated, lymphoreticular disease from the scurfy (sf) mouse
35. - T cells are the effector cells in disease pathogenesis in the scurfy (sf) mouse
36. Cellular and molecular characterization of the scurfy mouse mutant
37. Disease in the scurfy (sf) mouse is associated with overexpression of cytokine genes
38. The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome
39. The mouse scurfy (sf) mutation is tightly linked to Gatal and Tfe3 on the proximal X chromosome
40. Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse
41. JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome
42. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
43. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
44. Escape from tolerance in the human X-linked autoimmunity-allergic disregulation syndrome and the Scurfy mouse
45. Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome
46. Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation
47. Motheaten, an immunodeficient mutant of the mouse. I. Genetics and pathology
48. Viable motheaten, a new allele at the motheaten locus. I. Pathology
49. Motheaten, an immunodeficient mutant of the mouse. II. Depressed immune competence and elevated serum immunoglobulins
50. The mouse mutant motheaten. II. Functional studies of the immune system
51. Phenotypic and functional effects of the motheaten gene on murine B and T lymphocytes
52. Mutations at the murine motheaten locus are within the hematopoietic cell protein-tyrosine phosphatase (Hcph) gene
53. Motheaten and viable motheaten mice have mutations in the haematopoietic cell phosphatase gene
54. Assignment of a novel protein tyrosine phosphatase gene (Hcph) to mouse chromosome 6
55. Protein tyrosine phosphatase containing SH2 domains: Characterization, preferential expression in hematopoietic cells, and localization to human chromosome 12p12-p13
56. Roles of the SHP- 1 tyrosine phosphatase in the negative regulation of cell signalling
57. Mutation of the hematopoietic cell phosphatase (Hcph) gene is associated with resistance to gamma-irradiation-induced apoptosis in Src homology protein tyrosine phosphatase (SHP)-1-deficient "motheaten" mutant mice
58. Human protein tyrosine phosphatase 1C (PTPN6) gene structure: Alternate promoter usage and exon skipping generate multiple transcripts
59. RNA hyperediting and alternative splicing of hematopoietic cell phosphatase (PTPN6) gene in acute myeloid leukemia
60. Lack of phosphotyrosine phosphatase SHP-1 expression in malignant T-cell lymphoma cells results from methylation of the SHP-1 promoter
61. Defective expression of the SHP-1 phosphatase in polycythemia vera
62. Up-regulation of the protein tyrosine phosphatase SHP-1 in human breast cancer and correlation with GRB2 expression
63. Spontaneous murine lupus-like syndromes: Clinical and immunopathological manifestations in several strains
64. A new mutation, gld, that produces lymphoproliferation and autoimmunity in C3H/HeJ mice
65. Lpr and gld: Single gene models of systemic autoimmunity and lymphoproliferative disease
66. Induction of various autoantibodies by mutant gene lpr in several strains of mice
67. Effects of thymectomy or androgen administration upon the autoimmune disease of MRL/Mp-lpr/lpr mice
68. Abnormalities induced by the mutant gene Ipr: Expansion of a unique lymphocyte subset
69. Aberrant transcription caused by the insertion of an early transposable element in an intron of the Fas antigen gene of lpr mice
70. Lymphoproliferation disorder in mice explained by defects in Fas antigen that mediates apoptosis
71. A new allele of the lpr locus, lprcg, that complements the gld gene in induction of lymphadenopathy in the mouse
72. Autoimmunity in mice bearing lprcg: A novel mutant gene
73. Research news: Generalized lymphoproliferative disease (gld)
74. Generalized lymphoproliferative disease in mice, caused by a point mutation in the Fas ligand
75. CD95's deadly mission in the immune system
76. Human autoimmune lymphoproliferative syndrome, a defect in the apoptosis-inducing Fas receptor: A lesson from the mouse model
77. Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome
78. Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity
79. Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity
80. Autoimmune lymphoproliferative syndrome, a disorder of apoptosis
81. Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease
82. CD95 (APO-1/Fas) mutations in childhood T-lineage acute lymphoblastic leukemia
83. Mutation of CD95 (Fas/Apo-1) gene in adult T-cell leukemia cells
84. Mutations in the Fas antigen in patients with multiple myeloma
85. Somatic Fas mutations in non-Hodgkin's lymphoma: Association with extranodal disease and autoimmunity
86. Mutations in apoptosis genes: A pathogenetic factor for human disease
87. A study of the hereditary anemia of mice
88. v substitution on hair pigmentation and erythrocytes
89. Steel a new dominant gene in the house mouse
90. Hereditary anemias of the mouse: A review for geneticists
91. Analysis of pleiotropism at the dominant white-spotting (W) locus of the house mouse: A description of ten new W alleles
92. An experimental analysis of the pigment defect caused by mutations at the W and S1 loci in mice
93. A comparison of pigment cell development in albino, steel, and dominant-spotting mutant mouse embryos
94. v
95. The cellular basis of the genetically determined hemopoietic defect in anemic mice of genotype Sl-Sld
96. In vitro duplication and "cure" of haemopoietic defects in genetically anaemic mice
97. The proto-oncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus
98. The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene
99. The hematopoietic growth factor KL is encoded by the Sl locus and is the ligand of the c-kit receptor, the gene product of the W locus
100. Stem cell factor is encoded at the Sl locus of the mouse and is the ligand for the c-kit tyrosine kinase receptor
101. Identification of a ligand for the c-kit proto-oncogene
102. Mast cell growth factor maps near the steel locus on mouse chromosome 10 and is deleted in a number of steel alleles
103. Steel factor and c-kit receptor: From mutants to a growth factor system
104. Stem cell factor and hematopoiesis
105. The biology of stem cell factor and its receptor c-kit
106. Early signaling pathways activated by c-kit in hematopoietic cells
107. Kit signal transduction
108. Molecular basis of human piebaldism
109. Three novel mutations of the proto-oncogene KIT cause human piebaldism
110. Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis
111. Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: Establishment of clonality in a human mast cell neoplasm
112. Familial gastrointestinal stromal tumours with germline mutation of the KIT gene
113. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors
114. Classes of c-KIT activating mutations: Proposed mechanisms of action and implications for disease classification and therapy
115. Agammaglobulinemia
116. X-linked agammaglobulinemia: A clinical and molecular analysis
117. Genetic control of the antibody response to type 3 pneumococcal polysaccharide in mice. I. Evidence that an X-linked gene plays a decisive role in determining responsiveness
118. X-linked B-lymphocyte immune defect in CBA/HN mice. I. Studies of the function and composition of spleen cells
119. X-linked B-lymphocyte immune defect in CBA/N mice. II. Studies of the mechanisms underlying the immune defect
120. X-linked B-lymphocyte defect in CBA/N mice. III. Abnormal development of B-lymphocyte populations defined by their density of surface immunoglobulin
121. X-linked B lymphocyte defect in CBA/N mice. IV. Cellular and environmental influences on the thymus dependent IgG anti-sheep red blood cell response
122. X-linked immune deficiency (xid) of CBA/N mice
123. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia
124. The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases
125. Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes
126. Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice
127. The Btk subfamily of cytoplasmic tyrosine kinases: Structure, regulation and function
128. Signaling network of the Btk family kinases
129. Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia
130. Impaired expansion of mouse B cell progenitors lacking Btk
131. Defective B cell development and function in Btk-deficient mice
132. Functions of Bruton's tyrosine kinase in mast and B cells
133. Bruton's tyrosine kinase controls a sustained calcium signal essential for B lineage development and function
134. The role of Bruton's tyrosine kinase in B-cell development and function: A genetic perspective
135. Btk and BLNK in B cell development
136. Genetic basis of abnormal B cell development
137. A new mutation, aly, that induces a generalized lack of lymph nodes accompanied by immunodeficiency in mice
138. Defects of somatic hypermutation and class switching in alymphoplasia (aly) mutant mice
139. The splenic marginal zone is absent in alymphoplastic aly mutant mice
140. Immunodeficiency of alymphoplasia mice (aly/aly) in vivo: Structural defect of secondary lymphoid organs and functional B cell defect
141. Abnormal immune function of hemopoietic cells from alymphoplasia (aly) mice, a natural strain with mutant NF-kappa B-inducing kinase
142. Alymphoplasia is caused by a point mutation in the mouse gene encoding Nf-kappa b-inducing kinase
143. MAP3K-related kinase involved in NF-kappaB induction by TNF, CD95 and IL- 1
144. Alymphoplasia (aly)-type nuclear factor kappaB-inducing kinase (NIK) causes defects in secondary lymphoid tissue chemokine receptor signaling and homing of peritoneal cells to the gut-associated lymphatic tissue system
145. Lineage-restricted function of nuclear factor kappaB-inducing kinase (NIK) in transducing signals via CD40
146. Defective lymphotoxin-beta receptor-induced NF-kappaB transcriptional activity in NIK-deficient mice
147. NF-kappaB: A key role in inflammatory diseases
148. NF-kappa B and Rel proteins: Evolutionarily conserved mediators of immune responses
149. The NIK protein kinase and C17orf1 genes: Chromosomal mapping, gene structures and mutational screening in frontotemporal dementia and parkinsonism linked to chromosome 17
150. Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
151. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling
152. Identification of a cell protein (FIP-3) as a modulator of NF-kappaB activity and as a target of an adenovirus inhibitor of tumor necrosis factor alpha-induced apoptosis
153. Giant granules in leukocytes of the beige mouse
154. Increased susceptibility to cytomegalovirus infection in beige mutant mice
155. Susceptibility of beige mice to Mycobacterium avium complex infections by different routes of challenge
156. Genetic defects in Chediak-Higashi syndrome and the beige mouse
157. Characterization and significance of abnormal leukocyte granules in the beige mouse: A possible homologue for Chediak-Higashi Aleutian trait
158. A comparative study of the lesions in cultured fibroblasts of humans and four species of animals with Chediak-Higashi syndrome
159. Complementation analysis of Chediak-Higashi syndrome: The same gene may be responsible for the defect in all patients and species
160. Identification of the murine beige gene by YAC complementation and positional cloning
161. Identification of the homologous beige and Chediak-Higashi syndrome genes
162. The beige/Chediak-Higashi syndrome gene encodes a widely expressed cytosolic protein
163. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome
164. Mapping of the beige (bg) gene on rat chromosome 17
165. Cloning of bovine LYST gene and identification of a missense mutation associated with Chediak-Higashi syndrome of cattle
166. Analysis of the lysosomal storage disease Chediak-Higashi syndrome
167. Defective CTLA-4 cycling pathway in Chediak-Higashi syndrome: A possible mechanism for deregulation of T lymphocyte activation
168. Osteopetrosis, a new recessive skeletal mutation on chromosome 12 of the mouse
169. Abnormal differentiation of tissue macrophage populations in 'osteopetrosis' (op) mice defective in the production of macrophage colony-stimulating factor
170. Hematological characterization of congenital osteopetrosis in op/op mouse: Possible mechanism for abnormal macrophage differentiation
171. A functional assessment of macrophages from osteopetrotic mice
172. Macrophage differentiation and granulomatous inflammation in osteopetrotic mice (op/op) defective in the production of CSF-1
173. Differentiation of dendritic cell populations in macrophage colony-stimulating factor-deficient mice homozygous for the osteopetrosis (op) mutation
174. Intramedullary and extramedullary B lymphopoiesis in osteopetrotic mice
175. Congenitally osteopetrotic (oplop) mice are not cured by transplants of spleen or bone marrow cells from normal littermates
176. The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene
177. CSF-1 deficiency in mice results in abnormal brain development
178. Role of colony-stimulating factor-1 in reproduction and development
179. Biology and action of colony-stimulating factor-1
180. Reassignment of the human CSF1 gene to chromosome 1p13-p21
181. Localization of a gene for autosomal dominant osteopetrosis (Albers-Schonberg disease) to chromosome 1p21
182. Experimental studies of osteopetrosis in laboratory animals
183. Genetic control of leucocyte responses to endotoxin
184. Genetic factors in leucocyte responses to endotoxin: Further studies in mice
185. Genetic control of host responses to endotoxin
186. Action of endotoxin on lymphoid cells
187. Differentiation of B lymphocytes in C3H/HeJ mice: The induction of Ia antigens by lipopolysaccharide
188. Genetical control of B-cell responses. IV. Inheritance of the unresponsiveness to lipopolysaccharides
189. Endotoxin-induced T. lymphocyte proliferation
190. Resistance of macrophages from C3H/HeJ mice to the in vitro cytotoxic effects of endotoxin
191. Analysis of the effects of lipopolysaccharide on macrophages: Differential phagocytic responses of C3H/HeN and C3H/HeJ macrophages in vitro
192. The inflammatory response and resistance to endotoxin in mice
193. Genetic control of susceptibility to Salmonella typhimurium in mice: Role of the LPS gene
194. Genetic control of resistance to infection in mice
195. Genetic defect in responsiveness to the B cell mitogen lipopolysaccharide
196. Genetic basis for unresponsiveness to lipopolysaccharide in C57BL/10Cr mice
197. The genetic mapping of a defective LPS response gene in C3H/HeJ mice
198. Defective LPS signaling in C3H/HeJ and C57BL/10ScCr mice: Mutations in Tlr4 gene
199. Endotoxin-tolerant mice have mutations in Toll-like receptor 4 (Tlr4)
200. Toll-like receptors in the induction of the innate immune response
201. Toll receptors in innate immunity
202. The Toll gene of Drosophila, required for dorsal-ventral embryonic polarity, appears to encode a transmembrane protein
203. Toll and Toll-like proteins: An ancient family of receptors signaling infection
204. A human homologue of the Drosophila Toll protein signals activation of adaptive immunity
205. Cutting edge: Toll-like receptor 4 (TLR4)-deficient mice are hyporesponsive to lipopolysaccharide: Evidence for TLR4 as the Lps gene product
206. Gamma interferon production in endotoxin-responder and -nonresponder mice during infection
207. A point mutation in the il-12rbeta2 gene underlies the il-12 unresponsiveness of lps-defective c57bl/10sccr mice
208. Inherited IL-12 unresponsiveness contributes to the high LPS resistance of the Lps(d) C57BL/10ScCr mouse
209. Variable airway responsiveness to inhaled lipopolysaccharide
210. TLR4 mutations are associated with endotoxin hyporesponsiveness in humans
211. Neue Mutationen und Kopplungsgruppen bei der Hausmause
212. Insight into the microphthalmia gene
213. Effect of the mi allele on mast cells, basophils, natural killer cells, and osteoclasts in C57B1/6J mice
214. Fusion disability of embryonic osteoclast precursor cells and macrophages in the microphthalmic osteopetrotic mouse
215. Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein
216. A helix-loop-helix transcription factor-like gene is located at the mi locus
217. Microphthalmic mice display a B cell deficiency similar to that seen for mast and NK cells
218. Inhibitory effect on natural killer activity of microphthahnia transcription factor encoded by the mutant mi allele of mice
219. Inhibitory effect of the mi transcription factor encoded by the mutant mi allele on GA binding protein-mediated transcript expression in mouse mast cells
220. MITF: A stream flowing for pigment cells
221. Mitf from neural crest to melanoma: Signal transduction and transcription in the melanocyte lineage
222. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene
223. Waardenburg syndrome
224. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
225. Epistatic relationship between Waardenburg syndrome genes MITF and PAX3
226. 'Wasted,' a new mutant of the mouse with abnormalities characteristic to ataxia telangiectasia
227. Radiation sensitivity of T-lymphocytes from immunodeficient "wasted" mice
228. The wasted mutant mouse. I. An animal model of secretory IgA deficiency with normal serum IgA
229. Characterization of immunologic and neuropathologic abnormalities in wasted mice
230. Cytokine and T-cell subset abnormalities in immunodeficient wasted mice
231. The wst gene regulates multiple forms of thymocyte apoptosis
232. The lethal mutation of the mouse wasted (wst) is a deletion that abolishes expression of a tissue-specific isoform of translation elongation factor 1alpha, encoded by the Eefla2 gene
233. Tissue-specific expression in mammalian brain, heart, and muscle of S1, a member of the elongation factor-1 alpha gene family
234. Wasted by an elongation factor
235. The mouse mutant "wasted:" An animal model for ataxia-telangiectasia
236. Evaluation of the mouse mutant "wasted" as an animal model for ataxia telangiectasia. I. Age-dependent and tissue-specific effects
237. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23
238. The human elongation factor 1 A-2 gene (EEF1A2): Complete sequence and characterization of gene structure and promoter activity
239. Hairless mice
240. The character hairless in the mouse
241. Hair loss and cyst formation in hairless and rhino mutant mice
242. Immunologic abnormalities in HRS/J mice. I. Specific deficit in T lymphocyte helper function in a mutant mouse
243. Hereditary immunodeficiency and leukemogenesis in HRS-J mice
244. Immunopathology of rhino mouse, an autosomal recessive mutant with murine lupus-like disease
245. Pleiotropic mutations causing abnormalities in the murine immune system and the skin
246. Structure and expression of the hairless gene of mice
247. The hairless gene of the mouse: Relationship of phenotypic effects with expression profile and genotype
248. Alopecia universalis associated with a mutation in the human hairless gene
249. Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene
250. A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers
251. Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family
252. Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans
253. The molecular basis of congenital atrichia in humans and mice: Mutations in the hairless gene
254. The "hairless" gene in mouse and man