JAX
Mouse Strain Datasheet - 006564
B6(C)-KitW-41J Gusbmps/BrkJ
Also Known As: W41 MPS VII
These mutant mice exhibit lysosomal storage disease and may serve as a model for Sly disease in humans.
Donating Investigator
Brian Soper, The Jackson Laboratory
Genetic overview
| Genetic Background | Generation |
|---|---|
|
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Gusbmps
| Allele Type | Gene Symbol | Gene Name |
|---|---|---|
| Spontaneous | Gusb | glucuronidase, beta |
KitW-41J
| Allele Type | Gene Symbol | Gene Name |
|---|---|---|
| Spontaneous | Kit | KIT proto-oncogene receptor tyrosine kinase |
Research Applications
- Research Tools
- Developmental Biology Research
- Metabolism Research
- Neurobiology Research
- Sensorineural Research
- Cancer Research
- Dermatology Research
- Endocrine Deficiency Research
Detailed Description
Mice homozygous for the "mps" (mucopolysaccharidosis type VII or MPS VII) mutation are devoid of expression of the lysosomal enzyme beta glucuronidase. Homozygous animals are viable, but females have a deficiency in lactation. Skeletal and connective tissue anomalies in both males and females are believed to prevent successful breeding. As this mutation is recessive, heterozygous mice are phenotypically similar to wildtype. Homozygotes exhibit short and thickened long bones (smaller than heterozygous or wildtype littermates), "pug type" appearance of the nose, hepatomegaly, splenomegaly, corneal clouding, and deafness. In appearance, homozygous KitW-41J mice are mostly white with black eyes and brown or grey spots. They are fertile, distinct from mice with other alleles of Kit, and have the impaired hemopoiesis causing mild, normochromic, macrocytic anemia. MPS VII mice are a model of the beta glucuronidase enzyme deficiency in humans called Sly Disease. They may be useful in developing new therapies (enzyme replacement, cell transplantation, gene therapy) broadly applicable to other lysosomal storage diseases. This strain, with combined KitW-41J and Gusbmps, provides a genetically myeloablated population in which to study stem cell engraftment and reconstitution.
Development
This double mutant was generated by crossing B6.C-H2bm1/ByBir-Gusbmps/J (Stock No. 000256) and C57BL/6J-KitW-41J/J (Stock No. 000119). Progeny selected for the appropriate alleles were backcrossed to C57BL/6J-KitW-41J/J (Stock No. 000119) for 10 generations by Dr. Jane Barker at The Jackson Laboratory. The strain was donated to the Repository in 2007.
Selected References
- Soper BW; Duffy TM; Vogler CA; Barker JE. 1999. A genetically myeloablated MPS VII model detects the expansion and curative properties of as few as 100 enriched murine stem cells. Exp Hematol 27(11):1691-704. PubMed: 10560917MGI: J:58272
Gusbmps
Allele Symbol: Gusbmps
| Allele Name | beta glucuronidase, mucopolysaccharidosis VII |
|---|---|
| Allele Type | Spontaneous |
| Allele Synonym(s) | Gus-b; MPS VII; asd; gusmps |
| Gene Symbol and Name | Gusb, glucuronidase, beta |
| Gene Synonym(s) | AI747421; Ac2-223; BG; Gur; Gur; Gus; Gus-r; Gus-r; Gus-s; Gus-s; Gus-t; Gus-t; Gus-u; Gus-u; Gut; Gut; MPS7; adipose storage deficiency; adipose storage deficiency; asd; asd; beta-glucuronidase regulator; beta-glucuronidase structural; beta-glucuronidase systemic regulator; beta-glucuronidase temporal; expressed sequence AI747421; g; g |
| Strain of Origin | B6.C-H2-Kbm1/By |
| Chromosome | 5 |
| Molecular Note | A 1-bp deletion creates a frameshift mutation within exon 10, which introduces a premature stop codon at codon 497. |
| Mutations Made By | Brian Soper, The Jackson Laboratory |
KitW-41J
Allele Symbol: KitW-41J
| Allele Name | dominant spotting 41 Jackson |
|---|---|
| Allele Type | Spontaneous |
| Allele Synonym(s) | KitW41; W-41; W41 |
| Gene Symbol and Name | Kit, KIT proto-oncogene receptor tyrosine kinase |
| Gene Synonym(s) | Bs; C-Kit; CD117; Dominant white spotting; Fdc; Gsfsco1; Gsfsco1; Gsfsco5; Gsfsco5; Gsfsow3; Gsfsow3; PBT; SCFR; SCO1; SCO5; SOW3; Ssm; Steel Factor Receptor; Tr-kit; W; belly-spot; belly-spot; c-KIT; dominant spotting; gsf spotted coat 1; gsf spotted coat 5; phenotype like Sl or W 3; spotted sterile male |
| Strain of Origin | C57BL/6J |
| Chromosome | 5 |
| Molecular Note | Comparison of the coding sequence of this allele with normal c-kit indicated a G to A point mutation in the kinase domain at nucleotide 2519 that results in a valine to methionine substitution at amino acid 831. |
Disease Terms
Research Areas By Genotype
This mouse can be used to support research in many areas including:
- Research Tools
- Hematological Research
- Immunology, Inflammation and Autoimmunity Research
Genotype: Gusbmps related
- Developmental Biology Research
- Growth Defects
- Growth Defects (homozygous)
- Skeletal Defects
- Growth Defects
- Metabolism Research
- Neurobiology Research
- Behavioral and Learning Defects
- Sensorineural Research
Genotype: KitW-41J related
- Cancer Research
- Growth Factors/Receptors/Cytokines
- Increased Tumor Incidence
- Gonadal Tumors
- Gonadal Tumors: ovarian
- Oncogenes
- Dermatology Research
- Color and White Spotting Defects
- Developmental Biology Research
- Neural Crest Defects
- Endocrine Deficiency Research
- Bone/Bone Marrow Defects
- Gonad Defects
- Skin Defects
- Immunology, Inflammation and Autoimmunity Research
- Immunodeficiency
- Neurobiology Research
- Hearing Defects
- Receptor Defects
- Reproductive Biology Research
- Developmental Defects Affecting Gonads
- germ cell deficient
- Fertility Defects
- Gonadal Tumors
- ovarian
- Developmental Defects Affecting Gonads
- Research Tools
- Immunology, Inflammation and Autoimmunity Research
- Mast Cell Deficiency
- Immunology, Inflammation and Autoimmunity Research
- Sensorineural Research
- Hearing Defects
Mammalian Phenotype Terms by Genotype
Genotype: Gusbmps/Gusbmps KitW-41J/KitW-41J
B6(C)-KitW-41J Gusbmps/BrkJ
mortality/aging
- premature death
- average life span is approximately 26 weeks (MGI Ref ID J:58272)
hematopoietic system phenotype
- decreased hematopoietic stem cell number
- severe deficiency of hematopoietic stem cells (MGI Ref ID J:58272)
cellular phenotype
- abnormal lysosome morphology
- extensive lysosomal storage, evident histologically as large cleared foamy cells, in the liver, kidney, and spleen (MGI Ref ID J:58272)
References
- Soper BW; Duffy TM; Vogler CA; Barker JE. 1999. A genetically myeloablated MPS VII model detects the expansion and curative properties of as few as 100 enriched murine stem cells. Exp Hematol 27(11):1691-704. PubMed: 10560917MGI: J:58272
Additional - Gusbmps related
- Alfaro MP; Pagni M; Vincent A; Atkinson J; Hill MF; Cates J; Davidson JM; Rottman J; Lee E; Young PP. 2008. The Wnt modulator sFRP2 enhances mesenchymal stem cell engraftment, granulation tissue formation and myocardial repair. Proc Natl Acad Sci U S A 105(47):18366-71. PubMed: 19017790MGI: J:142215
- Baldo G; Wu S; Howe RA; Ramamoothy M; Knutsen RH; Fang J; Mecham RP; Liu Y; Wu X; Atkinson JP; Ponder KP. 2011. Pathogenesis of aortic dilatation in mucopolysaccharidosis VII mice may involve complement activation. Mol Genet Metab 104(4):608-19. PubMed: 21944884MGI: J:178881
- Barker JE; Deveau S; Lessard M; Hamblen N; Vogler C; Levy B. 2001. In Utero Fetal Liver Cell Transplantation without Toxic Irradiation Alleviates Lysosomal Storage in Mice with Mucopolysaccharidosis Type VII. Blood Cells Mol Dis 27(5):861-73. PubMed: 11783949MGI: J:72147
- Bastedo L; Sands MS; Lambert DT; Pisa MA; Birkenmeier E; Chang PL. 1994. Behavioral consequences of bone marrow transplantation in the treatment of murine mucopolysaccharidosis type VII. J Clin Invest 94(3):1180-6. PubMed: 8083358MGI: J:20455
- Beamer WG; Coleman DL. 1982. [Adipose storage deficiency (asd)]. Mouse News Lett 67:21. MGI: J:13923
- Berry CL; Vogler C; Galvin NJ; Birkenmeier EH; Sly WS. 1994. Pathology of the ear in murine mucopolysaccharidosis type VII. Morphologic correlates of hearing loss. Lab Invest 71(3):438-45. PubMed: 7933993MGI: J:20883
- Birkenmeier EH; Barker JE; Vogler CA; Kyle JW; Sly WS; Gwynn B; Levy B; Pegors C. 1991. Increased life span and correction of metabolic defects in murine mucopolysaccharidosis type VII after syngeneic bone marrow transplantation. Blood 78(11):3081-92. PubMed: 1954394MGI: J:1655
- Birkenmeier EH; Davisson MT; Beamer WG; Ganschow RE; Vogler CA; Gwynn B; Lyford KA; Maltais LM; Wawrzyniak CJ. 1989. Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency. J Clin Invest 83(4):1258-6. PubMed: 2495302MGI: J:9705
- Casal ML; Wolfe JH. 2000. Mucopolysaccharidosis type VII in the developing mouse fetus Pediatr Res 47(6):750-6. PubMed: 10832732MGI: J:63383
- Casal ML; Wolfe JH. 1998. Variant clinical course of mucopolysaccharidosis type VII in two groups of mice carrying the same mutation. Lab Invest 78(12):1575-81. PubMed: 9881957MGI: J:51808
- Chang PL; Lambert DT; Pisa MA. 1993. Behavioural abnormalities in a murine model of a human lysosomal storage disease. Neuroreport 4(5):507-10. PubMed: 8513128MGI: J:15184
- Chen YH; Chang M; Davidson BL. 2009. Molecular signatures of disease brain endothelia provide new sites for CNS-directed enzyme therapy. Nat Med 15(10):1215-8. PubMed: 19749771MGI: J:154308
- Daly TM; Vogler C; Levy B; Haskins ME; Sands MS. 1999. Neonatal gene transfer leads to widespread correction of pathology in a murine model of lysosomal storage disease. Proc Natl Acad Sci U S A 96(5):2296-300. PubMed: 10051635MGI: J:53359
- Derrick-Roberts AL; Panir K; Pyragius CE; Zarrinkalam KH; Atkins GJ; Byers S. 2016. Reversal of established bone pathology in MPS VII mice following lentiviral-mediated gene therapy. Mol Genet Metab 119(3):249-257. PubMed: 27692945MGI: J:238497
- Donsante A; Vogler C; Muzyczka N; Crawford JM; Barker J; Flotte T; Campbell-Thompson M; Daly T; Sands MS. 2001. Observed incidence of tumorigenesis in long-term rodent studies of rAAV vectors. Gene Ther 8(17):1343-6. PubMed: 11571571MGI: J:71706
- Faust JR; Rodman JS; Daniel PF; Dice JF; Bronson RT. 1994. Two related proteolipids and dolichol-linked oligosaccharides accumulate in motor neuron degeneration mice (mnd/mnd), a model for neuronal ceroid lipofuscinosis. J Biol Chem 269(13):10150-5. PubMed: 8144516MGI: J:17522
- Freeman BJ; Roberts MS; Vogler CA; Nicholes A; Hofling AA; Sands MS. 1999. Behavior and therapeutic efficacy of beta-glucuronidase-positive mononuclear phagocytes in a murine model of mucopolysaccharidosis type VII. Blood 94(6):2142-50. PubMed: 10477745MGI: J:57636
- Frischmeyer-Guerrerio PA; Montgomery RA; Warren DS; Cooke SK; Lutz J; Sonnenday CJ; Guerrerio AL; Dietz HC. 2011. Perturbation of thymocyte development in nonsense-mediated decay (NMD)-deficient mice. Proc Natl Acad Sci U S A 108(26):10638-43. PubMed: 21670277MGI: J:173551
- Ghodsi A; Stein C; Derksen T; Martins I; Anderson RD; Davidson BL. 1999. Systemic hyperosmolality improves beta-glucuronidase distribution and pathology in murine MPS VII brain following intraventricular gene transfer. Exp Neurol 160(1):109-16. PubMed: 10630195MGI: J:58538
- Hofling AA; Vogler C; Creer MH; Sands MS. 2003. Engraftment of human CD34+ cells leads to widespread distribution of donor-derived cells and correction of tissue pathology in a novel murine xenotransplantation model of lysosomal storage disease. Blood 101(5):2054-63. PubMed: 12406886MGI: J:109848
- Kyle JW; Birkenmeier EH; Gwynn B; Vogler C; Hoppe PC; Hoffmann JW; Sly WS. 1990. Correction of murine mucopolysaccharidosis VII by a human beta-glucuronidase transgene. Proc Natl Acad Sci U S A 87(10):3914-8. PubMed: 2111021MGI: J:21256
- Li B; Sharpe EE; Maupin AB; Teleron AA; Pyle AL; Carmeliet P; Young PP. 2006. VEGF and PlGF promote adult vasculogenesis by enhancing EPC recruitment and vessel formation at the site of tumor neovascularization. FASEB J 20(9):1495-7. PubMed: 16754748MGI: J:111344
- Majumder M; Xin X; Liu L; Tutunea-Fatan E; Rodriguez-Torres M; Vincent K; Postovit LM; Hess D; Lala PK. 2016. COX-2 Induces Breast Cancer Stem Cells via EP4/PI3K/AKT/NOTCH/WNT Axis. Stem Cells 34(9):2290-305. PubMed: 27301070MGI: J:238376
- Meng XL; Shen JS; Kawagoe S; Ohashi T; Brady RO; Eto Y. 2010. Induced pluripotent stem cells derived from mouse models of lysosomal storage disorders. Proc Natl Acad Sci U S A 107(17):7886-91. PubMed: 20385825MGI: J:159373
- Metcalf JA; Zhang Y; Hilton MJ; Long F; Ponder KP. 2009. Mechanism of shortened bones in mucopolysaccharidosis VII. Mol Genet Metab 97(3):202-11. PubMed: 19375967MGI: J:150606
- Monroy MA; Ross FP; Teitelbaum SL; Sands MS. 2002. Abnormal osteoclast morphology and bone remodeling in a murine model of a lysosomal storage disease. Bone 30(2):352-9. PubMed: 11856642MGI: J:109426
- Moullier P; Bohl D; Heard JM; Danos O. 1993. Correction of lysosomal storage in the liver and spleen of MPS VII mice by implantation of genetically modified skin fibroblasts [see comments] Nat Genet 4(2):154-9. PubMed: 8348154MGI: J:11889
- Niermann GL; Watson GL. 1999. Growth hormone and insulin-like growth factor-I enhance beta-glucuronidase gene activation by androgen in mouse kidney. Mol Cell Endocrinol 153(1-2):47-55. PubMed: 10459853MGI: J:56310
- O'Connor LH; Erway LC; Vogler CA; Sly WS; Nicholes A; Grubb J; Holmberg SW; Levy B; Sands MS. 1998. Enzyme replacement therapy for murine mucopolysaccharidosis type VII leads to improvements in behavior and auditory function. J Clin Invest 101(7):1394-400. PubMed: 9525982MGI: J:46825
- Ohashi T; Watabe K; Uehara K; Sly WS; Vogler C; Eto Y. 1997. Adenovirus-mediated gene transfer and expression of human beta-glucuronidase gene in the liver, spleen, and central nervous system in mucopolysaccharidosis type VII mice. Proc Natl Acad Sci U S A 94(4):1287-92. PubMed: 9037045MGI: J:38613
- Ohlemiller KK; Hennig AK; Lett JM; Heidbreder AF; Sands MS. 2002. Inner ear pathology in the mucopolysaccharidosis VII mouse. Hear Res 169(1-2):69-84. PubMed: 12121741MGI: J:108876
- Ohlemiller KK; Vogler CA; Roberts M; Galvin N; Sands MS. 2000. Retinal function is improved in a murine model of a lysosomal storage disease following bone marrow transplantation Exp Eye Res 71(5):469-81. PubMed: 11040082MGI: J:66030
- Parente MK; Rozen R; Cearley CN; Wolfe JH. 2012. Dysregulation of gene expression in a lysosomal storage disease varies between brain regions implicating unexpected mechanisms of neuropathology. PLoS One 7(3):e32419. PubMed: 22403656MGI: J:186852
- Parente MK; Rozen R; Seeholzer SH; Wolfe JH. 2016. Integrated analysis of proteome and transcriptome changes in the mucopolysaccharidosis type VII mouse hippocampus. Mol Genet Metab 118(1):41-54. PubMed: 27053151MGI: J:232108
- Poorthuis BJ; Romme AE; Willemsen R; Wagemaker G. 1994. Bone marrow transplantation has a significant effect on enzyme levels and storage of glycosaminoglycans in tissues and in isolated hepatocytes of mucopolysaccharidosis type VII mice. Pediatr Res 36(2):187-93. PubMed: 7970933MGI: J:22149
- Sands MS; Birkenmeier EH. 1993. A single-base-pair deletion in the beta-glucuronidase gene accounts for the phenotype of murine mucopolysaccharidosis type VII. Proc Natl Acad Sci U S A 90(14):6567-71. PubMed: 8101990MGI: J:13207
- Sands MS; Vogler C; Kyle JW; Grubb JH; Levy B; Galvin N; Sly WS; Birkenmeier EH. 1994. Enzyme replacement therapy for murine mucopolysaccharidosis type VII. J Clin Invest 93(6):2324-31. PubMed: 8200966MGI: J:19122
- Sato T; Ikeda M; Yotsumoto S; Shimada Y; Higuchi T; Kobayashi H; Fukuda T; Ohashi T; Suda T; Ohteki T. 2013. Novel interferon-based pre-transplantation conditioning in the treatment of a congenital metabolic disorder. Blood 121(16):3267-73. PubMed: 23412092MGI: J:196707
- Sferra TJ; Qu G; McNeely D; Rennard R; Clark KR; Lo WD; Johnson PR. 2000. Recombinant adeno-associated virus-mediated correction of lysosomal storage within the central nervous system of the adult mucopolysaccharidosis type VII mouse Hum Gene Ther 11(4):507-19. PubMed: 10724030MGI: J:61251
- Simonaro CM; Ge Y; Eliyahu E; He X; Jepsen KJ; Schuchman EH. 2010. Involvement of the Toll-like receptor 4 pathway and use of TNF-alpha antagonists for treatment of the mucopolysaccharidoses. Proc Natl Acad Sci U S A 107(1):222-7. PubMed: 20018674MGI: J:156466
- Skorupa AF; Fisher KJ; Wilson JM; Parente MK; Wolfe JH. 1999. Sustained production of beta-glucuronidase from localized sites after AAV vector gene transfer results in widespread distribution of enzyme and reversal of lysosomal storage lesions in a large volume of brain in mucopolysaccharidosis VII mice. Exp Neurol 160(1):17-27. PubMed: 10630187MGI: J:58536
- Sly WS; Vogler C; Grubb JH; Zhou M; Jiang J; Zhou XY; Tomatsu S; Bi Y; Snella EM. 2001. Active site mutant transgene confers tolerance to human beta -glucuronidase without affecting the phenotype of MPS VII mice. Proc Natl Acad Sci U S A 98(5):2205-10. PubMed: 11226217MGI: J:67876
- Snyder EY; Taylor RM; Wolfe JH. 1995. Neural progenitor cell engraftment corrects lysosomal storage throughout the MPS VII mouse brain. Nature 374(6520):367-70. PubMed: 7885477MGI: J:23926
- Stein CS; Ghodsi A; Derksen T; Davidson BL. 1999. Systemic and central nervous system correction of lysosomal storage in mucopolysaccharidosis type VII mice. J Virol 73(4):3424-9. PubMed: 10074197MGI: J:53465
- Tomatsu S; Orii KO; Vogler C; Nakayama J; Levy B; Grubb JH; Gutierrez MA; Shim S; Yamaguchi S; Nishioka T; Montano AM; Noguchi A; Orii T; Kondo N; Sly WS. 2003. Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease. Hum Mol Genet 12(24):3349-58. PubMed: 14583446MGI: J:87155
- Vogler C; Sands M; Higgins A; Levy B; Grubb J; Birkenmeier EH; Sly WS. 1993. Enzyme replacement with recombinant beta-glucuronidase in the newborn mucopolysaccharidosis type VII mouse. Pediatr Res 34(6):837-40. PubMed: 8108204MGI: J:22453
- Wolfe JH; Deshmane SL; Fraser NW. 1992. Herpesvirus vector gene transfer and expression of beta-glucuronidase in the central nervous system of MPS VII mice. Nat Genet 1(5):379-84. PubMed: 1338772MGI: J:1832
- Woloszynek JC; Coleman T; Semenkovich CF; Sands MS. 2007. Lysosomal dysfunction results in altered energy balance. J Biol Chem 282(49):35765-71. PubMed: 17911106MGI: J:129210
- Woloszynek JC; Roberts M; Coleman T; Vogler C; Sly W; Semenkovich CF; Sands MS. 2004. Numerous transcriptional alterations in liver persist after short-term enzyme-replacement therapy in a murine model of mucopolysaccharidosis type VII. Biochem J 379(Pt 2):461-9. PubMed: 14705966MGI: J:88886
- Xing EM; Wu S; Ponder KP. 2015. The effect of Tlr4 and/or C3 deficiency and of neonatal gene therapy on skeletal disease in mucopolysaccharidosis VII mice. Mol Genet Metab 114(2):209-16. PubMed: 25559179MGI: J:220353
Additional - KitW-41J related
- Benveniste P; Frelin C; Janmohamed S; Barbara M; Herrington R; Hyam D; Iscove NN. 2010. Intermediate-term hematopoietic stem cells with extended but time-limited reconstitution potential. Cell Stem Cell 6(1):48-58. PubMed: 20074534MGI: J:157080
- Benz C; Copley MR; Kent DG; Wohrer S; Cortes A; Aghaeepour N; Ma E; Mader H; Rowe K; Day C; Treloar D; Brinkman RR; Eaves CJ. 2012. Hematopoietic stem cell subtypes expand differentially during development and display distinct lymphopoietic programs. Cell Stem Cell 10(3):273-83. PubMed: 22385655MGI: J:185670
- Bowie MB; Kent DG; Copley MR; Eaves CJ. 2007. Steel factor responsiveness regulates the high self-renewal phenotype of fetal hematopoietic stem cells. Blood 109(11):5043-8. PubMed: 17327414MGI: J:145423
- Bowie MB; McKnight KD; Kent DG; McCaffrey L; Hoodless PA; Eaves CJ. 2006. Hematopoietic stem cells proliferate until after birth and show a reversible phase-specific engraftment defect. J Clin Invest 116(10):2808-16. PubMed: 17016561MGI: J:114978
- Cable J; Huszar D; Jaenisch R; Steel KP. 1994. Effects of mutations at the W locus (c-kit) on inner ear pigmentation and function in the mouse. Pigment Cell Res 7(1):17-32. PubMed: 7521050MGI: J:21178
- Cable J; Jackson IJ; Steel KP. 1995. Mutations at the W locus affect survival of neural crest-derived melanocytes in the mouse. Mech Dev 50(2-3):139-50. PubMed: 7619726MGI: J:24351
- Chen S; Burgin S; McDaniel A; Li X; Yuan J; Chen M; Khalaf W; Clapp DW; Yang FC. 2010. Nf1-/- Schwann cell-conditioned medium modulates mast cell degranulation by c-Kit-mediated hyperactivation of phosphatidylinositol 3-kinase. Am J Pathol 177(6):3125-32. PubMed: 21037083MGI: J:167633
- Cosgun KN; Rahmig S; Mende N; Reinke S; Hauber I; Schafer C; Petzold A; Weisbach H; Heidkamp G; Purbojo A; Cesnjevar R; Platz A; Bornhauser M; Schmitz M; Dudziak D; Hauber J; Kirberg J; Waskow C. 2014. Kit regulates HSC engraftment across the human-mouse species barrier. Cell Stem Cell 15(2):227-38. PubMed: 25017720MGI: J:232320
- D'Ascenzo M; Meacham C; Kitzman J; Middle C; Knight J; Winer R; Kukricar M; Richmond T; Albert TJ; Czechanski A; Donahue LR; Affourtit J; Jeddeloh JA; Reinholdt L. 2009. Mutation discovery in the mouse using genetically guided array capture and resequencing. Mamm Genome 20(7):424-36. PubMed: 19629596MGI: J:151778
- Diwakar G; Zhang D; Jiang S; Hornyak TJ. 2008. Neurofibromin as a regulator of melanocyte development and differentiation. J Cell Sci 121(Pt 2):167-77. PubMed: 18089649MGI: J:130856
- Dykstra B; Kent D; Bowie M; McCaffrey L; Hamilton M; Lyons K; Lee SJ; Brinkman R; Eaves C. 2007. Long-term propagation of distinct hematopoietic differentiation programs in vivo. Cell Stem Cell 1(2):218-29. PubMed: 18371352MGI: J:149712
- Dykstra B; Olthof S; Schreuder J; Ritsema M; de Haan G. 2011. Clonal analysis reveals multiple functional defects of aged murine hematopoietic stem cells. J Exp Med 208(13):2691-703. PubMed: 22110168MGI: J:179054
- Endele M; Loeffler D; Kokkaliaris KD; Hilsenbeck O; Skylaki S; Hoppe PS; Schambach A; Stanley ER; Schroeder T. 2017. CSF-1-induced Src signaling can instruct monocytic lineage choice. Blood 129(12):1691-1701. PubMed: 28159742MGI: J:241232
- Geissler EN; McFarland EC; Russell ES. 1981. Analysis of pleiotropism at the dominant white-spotting (W) locus of the house mouse: a description of ten new W alleles. Genetics 97(2):337-61. PubMed: 7274658MGI: J:6571
- Heuser M; Park G; Moon Y; Berg T; Xiang P; Kuchenbauer F; Vollett S; Lai C; Humphries RK. 2010. Extrinsic signals determine myeloid-erythroid lineage switch in MN1 leukemia. Exp Hematol 38(3):174-9. PubMed: 20096329MGI: J:158349
- Ingram DA; Yang FC; Travers JB; Wenning MJ; Hiatt K; New S; Hood A; Shannon K; Williams DA; Clapp DW. 2000. Genetic and biochemical evidence that haploinsufficiency of the Nf1 tumor suppressor gene modulates melanocyte and mast cell fates in vivo. J Exp Med 191(1):181-8. PubMed: 10620616MGI: J:59248
- Kokkaliaris KD; Drew E; Endele M; Loeffler D; Hoppe PS; Hilsenbeck O; Schauberger B; Hinzen C; Skylaki S; Theodorou M; Kieslinger M; Lemischka I; Moore K; Schroeder T. 2016. Identification of factors promoting ex vivo maintenance of mouse hematopoietic stem cells by long-term single-cell quantification. Blood 128(9):1181-92. PubMed: 27365423MGI: J:236477
- Lacombe J; Krosl G; Tremblay M; Gerby B; Martin R; Aplan PD; Lemieux S; Hoang T. 2013. Genetic interaction between Kit and Scl. Blood 122(7):1150-61. PubMed: 23836559MGI: J:202245
- McIntosh BE; Brown ME; Duffin BM; Maufort JP; Vereide DT; Slukvin II; Thomson JA. 2015. Nonirradiated NOD,B6.SCID Il2rgamma(-/-)Kit(W41/W41) (NBSGW) Mice Support Multilineage Engraftment of Human Hematopoietic Cells. Stem Cell Reports 4(2):171-80. PubMed: 25601207MGI: J:218738
- Nocka K; Tan JC; Chiu E; Chu TY; Ray P; Traktman P; Besmer P. 1990. Molecular bases of dominant negative and loss of function mutations at the murine c-kit/white spotting locus: W37, Wv, W41 and W. EMBO J 9(6):1805-13. PubMed: 1693331MGI: J:10528
- Rahmig S; Kronstein-Wiedemann R; Fohgrub J; Kronstein N; Nevmerzhitskaya A; Bornhauser M; Gassmann M; Platz A; Ordemann R; Tonn T; Waskow C. 2016. Improved Human Erythropoiesis and Platelet Formation in Humanized NSGW41 Mice. Stem Cell Reports :. PubMed: 27618723MGI: J:235122
- Reith AD; Rottapel R; Giddens E; Brady C; Forrester L; Bernstein A. 1990. W mutant mice with mild or severe developmental defects contain distinct point mutations in the kinase domain of the c-kit receptor. Genes Dev 4(3):390-400. PubMed: 1692559MGI: J:28221
- Sharma Y; Astle CM; Harrison DE. 2007. Heterozygous kit mutants with little or no apparent anemia exhibit large defects in overall hematopoietic stem cell function. Exp Hematol 35(2):214-220. PubMed: 17258070MGI: J:123190
- Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York. MGI: J:78801
- Thoren LA; Liuba K; Bryder D; Nygren JM; Jensen CT; Qian H; Antonchuk J; Jacobsen SE. 2008. Kit regulates maintenance of quiescent hematopoietic stem cells. J Immunol 180(4):2045-53. PubMed: 18250409MGI: J:131940
- Ye L; Zhang EY; Xiong Q; Astle CM; Zhang P; Li Q; From AH; Harrison DE; Zhang JJ. 2012. Aging Kit mutant mice develop cardiomyopathy. PLoS One 7(3):e33407. PubMed: 22428044MGI: J:187053