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Former Names B6C3-Aw-J/A-Mutedmu/+ (Changed: 15-DEC-04 ) B6C3 AJ/A-Mutedmu/J (Changed: 15-DEC-04 ) B6C3H-Aw-J/A-mu/+ (Changed: 15-DEC-04 ) Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N4F3 N1p Description
Mice homozygous for the muted spontaneous mutation (Mutedmu) have light eyes at birth and their fur is a muted brown shade, often with white underfur. Some have a balance defect, similar to that of pallid (Pldnpa). Homozygous mutant mice show head-tilting and loss of postural reflexes, due to absence of otoliths from the sacculus and utriculus of one or both ears. The bony labyrinth is normal; the mice are not deaf and do not circle. Mutant mice have prolonged bleeding times and a platelet storage pool deficiency (SPD) associated with abnormalities of the dense granules of the blood platelets. The combination of pigment, otolith, and SPD abnormalities also occurs in two other mouse mutants, pallid and mocha (Ap3d1mh), and is also seen in human Hermansky-Pudlak syndrome.
Strains carrying Aw-J allele
View Strains carrying Aw-J (31 strains)
Strains carrying Mutedmu allele
000293 CHMU/LeJ View Strains carrying Mutedmu (1 strain)
Strains carrying other alleles of a
View Strains carrying other alleles of a (154 strains)
View Related Disease (OMIM) Terms
Related Disease (OMIM) Terms
Hermansky-Pudlak Syndrome; HPS - Models with phenotypic similarity to human disease where etiologies are distinct.2 Storage Pool Platelet Disease - Models with phenotypic similarity to human disease where etiologies are distinct.2 Storage Pool Platelet Disease - 5
2 Human genes are associated with this disease. Orthologs of those genes do not appear in the mouse genotype(s).
5 Conditionally targeted allele(s)View Mammalian Phenotype Terms
Mammalian Phenotype Terms
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Mutedmu/Mutedmu
involves: Stock t
- behavior/neurological phenotype
- abnormal postural reflex (MGI Ref ID J:29164)
- head tilt (MGI Ref ID J:29164)
- impaired swimming (MGI Ref ID J:89392)
- mice show variable ability to swim
- skin/coat/nails phenotype
- diluted coat color (MGI Ref ID J:29164)
- muted brown fur with white under fur
- color intensity about 80% that of controls
- vision/eye phenotype
- abnormal eye pigmentation (MGI Ref ID J:29164)
- light eyes at birth
- hearing/vestibular/ear phenotype
- abnormal linear vestibular evoked potential (MGI Ref ID J:89392)
- mice with absent otoconia show absent vestibular compound action potentials
- variable defects in latencies, amplitudes and thresholds of VESPs, dependent on amounts of otoconia present
- abnormal otolith morphology (MGI Ref ID J:89392)
- variable absence of otoconia; some mice lack otoconia and some have reduced levels
- absent otoliths (MGI Ref ID J:5145)
- many lack otoliths in one or both ears
- head tilt (MGI Ref ID J:29164)
- homeostasis/metabolism phenotype
- abnormal platelet physiology (MGI Ref ID J:29151)
- reduced secretion of glucuronidase and serotonin in response to thrombin although serotonin secretion in the absence of thrombin was high
- decreased platelet ATP level (MGI Ref ID J:29151)
- no releasable ATP
- decreased platelet aggregation (MGI Ref ID J:29151)
- reduced platelet aggregation induced by collagen
- decreased platelet serotonin level (MGI Ref ID J:29151)
- serotonin levels in platelets is 8% of control levels
- increased bleeding time (MGI Ref ID J:29151)
- greater than 15 minutes
- renal/urinary system phenotype
- abnormal renal tubule morphology (MGI Ref ID J:29151)
- increased ceroid-like pigment detectable in proximal tubules
- decreased protein excretion (MGI Ref ID J:29151)
- decreased rate of lysosomal enzyme excretion into urine
- cellular phenotype
- lysosomal protein accumulation (MGI Ref ID J:29151)
- increased levels of beta-glucuronidase, beta-galactosidase, and beta-glucosidase in the kidney but not liver or platelet
- pigmentation phenotype
- abnormal eye pigmentation (MGI Ref ID J:29164)
- light eyes at birth
- abnormal melanosome morphology (MGI Ref ID J:88797)
- marked absence of fully pigmented, elongated melanosomes in skin
- accumulation of abnormal vescicular forms
- many striated melanosomes
- impaired melanosome maturation and reduced numbers per unit area
- immature melanosomes exocytosed by melanocytes and taken up keratinocytes
- diluted coat color (MGI Ref ID J:29164)
- muted brown fur with white under fur
- color intensity about 80% that of controls
- hematopoietic system phenotype
- abnormal platelet dense granule morphology (MGI Ref ID J:29151)
- lack of dense granules with clear outlines
- abnormal platelet physiology (MGI Ref ID J:29151)
- reduced secretion of glucuronidase and serotonin in response to thrombin although serotonin secretion in the absence of thrombin was high
Mutedmu/Mutedmu
CHMU/Le
- hematopoietic system phenotype
- *normal* hematopoietic system phenotype (MGI Ref ID J:29151)
- normal platelet counts
- abnormal platelet dense granule morphology (MGI Ref ID J:29151)
- although a normal number of dense granules stain with mepacrine, UV flashing is reduced by more than fivefold indicating an abnormal intragranular environment
- abnormal platelet dense granule number (MGI Ref ID J:29151)
- platelets nearly absent of dense granules
- abnormal platelet dense granule physiology (MGI Ref ID J:29151)
- very little releasable ATP is detected when low or high levels of collagen are added to platelets from homozygotes
- decreased platelet serotonin level (MGI Ref ID J:29151)
- platelet serotonin levels are less than 8% those of normal
- decreased platelet aggregation (MGI Ref ID J:29151)
- decreased aggregation both in the presence of high or low concentrations of collagen
- homeostasis/metabolism phenotype
- abnormal platelet dense granule physiology (MGI Ref ID J:29151)
- very little releasable ATP is detected when low or high levels of collagen are added to platelets from homozygotes
- decreased platelet serotonin level (MGI Ref ID J:29151)
- platelet serotonin levels are less than 8% those of normal
- decreased platelet aggregation (MGI Ref ID J:29151)
- decreased aggregation both in the presence of high or low concentrations of collagen
- increased bleeding time (MGI Ref ID J:29151)
- bleed time is greater than 15 minutes
- cellular phenotype
- decreased lysosomal enzyme secretion (MGI Ref ID J:29151)
- lysosomal enzyme levels are increased in kidneys and there is an associated decrease in secretion into the urine
- thrombin induced release of glucuronidase from platelets is decreased, although to a lesser degree than in mocha homozygotes, and thrombin induced release of galactosidase is 60% to 70% of normal
- pigmentation phenotype
- abnormal retinal pigment epithelium morphology (MGI Ref ID J:29151)
- although homozygotes do not have the giant granules that are found in the retinal pigment epithelial cells of beige mice, they do have enlarged retinal pigment granules
- vision/eye phenotype
- abnormal retinal pigment epithelium morphology (MGI Ref ID J:29151)
- although homozygotes do not have the giant granules that are found in the retinal pigment epithelial cells of beige mice, they do have enlarged retinal pigment granules
- renal/urinary system phenotype
- abnormal proximal convoluted tubule morphology (MGI Ref ID J:29151)
- higher than normal autofluorescence, typical of ceroid-like pigment, is found in proximal tubules
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:Mutedmu related
Dermatology Research
Color and White Spotting Defects
Neurobiology Research
Vestibular and Hearing Defects
Sensorineural Research
Vestibular and Hearing Defects
| Allele Symbol | Aw-J | ||
|---|---|---|---|
| Allele Name | white bellied agouti Jackson | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | AWJ; | ||
| Strain of Origin | C57BL/6J | ||
| Gene Symbol and Name | a, nonagouti | ||
| Chromosome | 2 | ||
| Gene Common Name(s) | AGSW; AGTI; AGTIL; ASP; As; MGC126092; MGC126093; SHEP9; agouti; agouti signal protein; agouti suppressor; | ||
| Allele Symbol | Mutedmu | ||
| Allele Name | muted | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | mu; | ||
| Strain of Origin | STOCK t | ||
| Gene Symbol and Name | Muted, muted | ||
| Chromosome | 13 | ||
| Gene Common Name(s) | 1810074A19Rik; BLOC-1 subunit; DKFZp686E2287; MU; RIKEN cDNA 1810074A19 gene; mu; | ||
| Molecular Note | An early transposon (Etn) insertion has been identified as the mutation underlying the phenotype in muted mice. Analysis of genomic DNA revealed an insertion into the third intron. 183 bp of Etn sequence has been incorporated into the mRNA , likely by the activation of cryptic splice sites within the Etn. This results in an in-frame insertion into the translated protein at position 106, predicting a 246 amino acid protein. A significant reduction in mRNA levels is observed. [MGI Ref ID J:75830] | ||
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
Lyon MF; Meredith R. 1969. Muted, a new mutant affecting coat colour and otoliths of the mouse, and its position in linkage group XIV. Genet Res 14(2):163-6. [PubMed: 5367369] [MGI Ref ID J:5145]
Jones SM; Erway LC; Johnson KR; Yu H; Jones TA. 2004. Gravity receptor function in mice with graded otoconial deficiencies. Hear Res 191(1-2):34-40. [PubMed: 15109702] [MGI Ref ID J:89392]
Swank RT; Reddington M; Howlett O; Novak EK. 1991. Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha. Blood 78(8):2036-44. [PubMed: 1912584] [MGI Ref ID J:29151]
Zhang Q; Li W; Novak EK; Karim A; Mishra VS; Kingsmore SF; Roe BA; Suzuki T; Swank RT. 2002. The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking. Hum Mol Genet 11(6):697-706. [PubMed: 11912185] [MGI Ref ID J:75830]
Aw-J relatedMutedmu relatedAberg T; Wang XP; Kim JH; Yamashiro T; Bei M; Rice R; Ryoo HM; Thesleff I. 2004. Runx2 mediates FGF signaling from epithelium to mesenchyme during tooth morphogenesis. Dev Biol 270(1):76-93. [PubMed: 15136142] [MGI Ref ID J:92174]
Barsh GS; Epstein CJ. 1989. Physical and genetic characterization of a 75-kilobase deletion associated with al, a recessive lethal allele at the mouse agouti locus. Genetics 121(4):811-8. [PubMed: 2566558] [MGI Ref ID J:9799]
Baurle J; Vogten H; Grusser-Cornehls U. 1998. Course and targets of the calbindin D-28k subpopulation of primary vestibular afferents. J Comp Neurol 402(1):111-28. [PubMed: 9831049] [MGI Ref ID J:118430]
Boran T; Lesot H; Peterka M; Peterkova R. 2005. Increased apoptosis during morphogenesis of the lower cheek teeth in tabby/EDA mice. J Dent Res 84(3):228-33. [PubMed: 15723861] [MGI Ref ID J:112546]
Chinta SJ; Rane A; Yadava N; Andersen JK; Nicholls DG; Polster BM. 2009. Reactive oxygen species regulation by AIF- and complex I-depleted brain mitochondria. Free Radic Biol Med 46(7):939-47. [PubMed: 19280713] [MGI Ref ID J:145908]
Cui CY; Hashimoto T; Grivennikov SI; Piao Y; Nedospasov SA; Schlessinger D. 2006. Ectodysplasin regulates the lymphotoxin-beta pathway for hair differentiation. Proc Natl Acad Sci U S A 103(24):9142-7. [PubMed: 16738056] [MGI Ref ID J:111051]
Cui CY; Kunisada M; Esibizione D; Grivennikov SI; Piao Y; Nedospasov SA; Schlessinger D. 2007. Lymphotoxin-beta regulates periderm differentiation during embryonic skin development. Hum Mol Genet 16(21):2583-90. [PubMed: 17673451] [MGI Ref ID J:129949]
Dickie MM. 1969. Mutations at the agouti locus in the mouse. J Hered 60(1):20-5. [PubMed: 5798139] [MGI Ref ID J:30922]
Esibizione D; Cui CY; Schlessinger D. 2008. Candidate EDA targets revealed by expression profiling of primary keratinocytes from Tabby mutant mice. Gene 427(1-2):42-6. [PubMed: 18848976] [MGI Ref ID J:143603]
Granholm DE; Reese RN; Granholm NH. 1996. Agouti alleles alter cysteine and glutathione concentrations in hair follicles and serum of mice (A y/a, A wJ/A wJ, and a/a). J Invest Dermatol 106(3):559-63. [PubMed: 8648194] [MGI Ref ID J:32132]
Granholm DE; Reese RN; Granholm NH. 1995. Agouti alleles influence thiol concentrations in hair follicles and extrafollicular tissues of mice (Ay/a, AwJ/AwJ, a/a). Pigment Cell Res 8(6):302-6. [PubMed: 8789738] [MGI Ref ID J:31403]
Jones JM; Huang JD; Mermall V; Hamilton BA; Mooseker MS; Escayg A; Copeland NG; Jenkins NA; Meisler MH. 2000. The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a. Hum Mol Genet 9(5):821-8. [PubMed: 10749990] [MGI Ref ID J:61324]
Kappenman KE; Dvoracek MA; Harvison GA; Fuller BB; Granholm NH. 1992. Tyrosinase abundance and activity in murine hairbulb melanocytes of agouti mutants (C57BL/6J-a/a, Ay/a, and AwJ/AwJ). Pigment Cell Res Suppl 2:79-83. [PubMed: 1409442] [MGI Ref ID J:1295]
Katoh A; Yoshida T; Himeshima Y; Mishina M; Hirano T. 2005. Defective control and adaptation of reflex eye movements in mutant mice deficient in either the glutamate receptor delta2 subunit or Purkinje cells. Eur J Neurosci 21(5):1315-26. [PubMed: 15813941] [MGI Ref ID J:101081]
Knapp PE; Adjan VV; Hauser KF. 2009. Cell-specific loss of kappa-opioid receptors in oligodendrocytes of the dysmyelinating jimpy mouse. Neurosci Lett 451(2):114-8. [PubMed: 19110031] [MGI Ref ID J:146365]
Lee M; Kim A; Chua SC Jr; Obici S; Wardlaw SL. 2007. Transgenic MSH overexpression attenuates the metabolic effects of a high-fat diet. Am J Physiol Endocrinol Metab 293(1):E121-31. [PubMed: 17374695] [MGI Ref ID J:126508]
Lu W; Tsirka SE. 2002. Partial rescue of neural apoptosis in the Lurcher mutant mouse through elimination of tissue plasminogen activator. Development 129(8):2043-50. [PubMed: 11934869] [MGI Ref ID J:111363]
Mayer TC; Fishbane JL. 1972. Mesoderm-ectoderm interaction in the production of the agouti pigmentation pattern in mice. Genetics 71(2):297-303. [PubMed: 4558326] [MGI Ref ID J:5288]
Mitsumori K; Yasuhara K; Mori I; Hayashi S; Shimo T; Onodera H; Nomura T; Hayashi Y. 1998. Pulmonary fibrosis caused by N-methyl-N-nitrosourethane inhibits lung tumorigenesis by urethane in transgenic mice carrying the human prototype c-Ha-ras gene. Cancer Lett 129(2):181-90. [PubMed: 9719460] [MGI Ref ID J:52138]
Monroe DG; Wipf LP; Diggins MR; Matthees DP; Granholm NH. 1998. Agouti-related maturation and tissue distribution of alpha-Melanocyte Stimulating Hormone in wild-type (AwJ/AwJ) and mutant (Ay/a,a/a) mice. Pigment Cell Res 11(5):310-3. [PubMed: 9877102] [MGI Ref ID J:52183]
Mullen RJ. 1974. A<w-J> - white-bellied agouti-J Mouse News Lett 50:38. [MGI Ref ID J:64104]
Mustonen T; Ilmonen M; Pummila M; Kangas AT; Laurikkala J; Jaatinen R; Pispa J; Gaide O; Schneider P; Thesleff I; Mikkola ML. 2004. Ectodysplasin A1 promotes placodal cell fate during early morphogenesis of ectodermal appendages. Development 131(20):4907-19. [PubMed: 15371307] [MGI Ref ID J:128256]
O'donnell SM; Hansberger MW; Connolly JL; Chappell JD; Watson MJ; Pierce JM; Wetzel JD; Han W; Barton ES; Forrest JC; Valyi-Nagy T; Yull FE; Blackwell TS; Rottman JN; Sherry B; Dermody TS. 2005. Organ-specific roles for transcription factor NF-kappaB in reovirus-induced apoptosis and disease. J Clin Invest 115(9):2341-2350. [PubMed: 16100570] [MGI Ref ID J:100906]
Peng J; Wu Z; Wu Y; Hsu M; Stevenson FF; Boonplueang R; Roffler-Tarlov SK; Andersen JK. 2002. Inhibition of caspases protects cerebellar granule cells of the weaver mouse from apoptosis and improves behavioral phenotype. J Biol Chem 277(46):44285-91. [PubMed: 12221097] [MGI Ref ID J:119427]
Peng J; Xie L; Stevenson FF; Melov S; Di Monte DA; Andersen JK. 2006. Nigrostriatal dopaminergic neurodegeneration in the weaver mouse is mediated via neuroinflammation and alleviated by minocycline administration. J Neurosci 26(45):11644-51. [PubMed: 17093086] [MGI Ref ID J:114943]
Poole TW. 1975. Dermal-epidermal interactions and the action of alleles at the agouti locus in the mouse. Dev Biol 42(2):203-10. [PubMed: 1090472] [MGI Ref ID J:5519]
Probst FJ; Cooper ML; Cheung SW; Justice MJ. 2008. Genotype, phenotype, and karyotype correlation in the XO mouse model of Turner Syndrome. J Hered 99(5):512-7. [PubMed: 18499648] [MGI Ref ID J:138994]
Smith DE; Xu SG. 2003. Ultrastructural organization of GABA-like immunoreactive profiles in the weaver substantia nigra. J Neurocytol 32(3):293-303. [PubMed: 14724391] [MGI Ref ID J:121345]
Vandenput L; Swinnen JV; Boonen S; Van Herck E; Erben RG; Bouillon R; Vanderschueren D. 2004. Role of the androgen receptor in skeletal homeostasis: the androgen-resistant testicular feminized male mouse model. J Bone Miner Res 19(9):1462-70. [PubMed: 15312246] [MGI Ref ID J:111491]
Wu Q; Miller RH; Ransohoff RM; Robinson S; Bu J; Nishiyama A. 2000. Elevated levels of the chemokine GRO-1 correlate with elevated oligodendrocyte progenitor proliferation in the jimpy mutant. J Neurosci 20(7):2609-17. [PubMed: 10729341] [MGI Ref ID J:109469]
Yamago G; Takata Y; Furuta I; Urase K; Momoi T; Huh N. 2001. Suppression of hair follicle development inhibits induction of sonic hedgehog, patched, and patched-2 in hair germs in mice. Arch Dermatol Res 293(9):435-41. [PubMed: 11758785] [MGI Ref ID J:116953]
Yoshida T; Katoh A; Ohtsuki G; Mishina M; Hirano T. 2004. Oscillating Purkinje neuron activity causing involuntary eye movement in a mutant mouse deficient in the glutamate receptor delta2 subunit. J Neurosci 24(10):2440-8. [PubMed: 15014119] [MGI Ref ID J:97010]
van Empel VP; Bertrand AT; van der Nagel R; Kostin S; Doevendans PA; Crijns HJ; de Wit E; Sluiter W; Ackerman SL; De Windt LJ. 2005. Downregulation of apoptosis-inducing factor in harlequin mutant mice sensitizes the myocardium to oxidative stress-related cell death and pressure overload-induced decompensation. Circ Res 96(12):e92-e101. [PubMed: 15933268] [MGI Ref ID J:110278]
Bossi G; Booth S; Clark R; Davis EG; Liesner R; Richards K; Starcevic M; Stinchcombe J; Trambas C; Dell'Angelica EC; Griffiths GM. 2005. Normal lytic granule secretion by cytotoxic T lymphocytes deficient in BLOC-1, -2 and -3 and myosins Va, VIIa and XV. Traffic 6(3):243-51. [PubMed: 15702992] [MGI Ref ID J:105404]
Falcon-Perez JM; Starcevic M; Gautam R; Dell'Angelica EC. 2002. BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules. J Biol Chem 277(31):28191-9. [PubMed: 12019270] [MGI Ref ID J:88019]
Jones SM; Erway LC; Johnson KR; Yu H; Jones TA. 2004. Gravity receptor function in mice with graded otoconial deficiencies. Hear Res 191(1-2):34-40. [PubMed: 15109702] [MGI Ref ID J:89392]
Lyon MF; Meredith R. 1965. Muted, mu Mouse News Lett 32:38. [MGI Ref ID J:29164]
McGarry MP; Reddington M; Novak EK; Swank RT. 1999. Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome. Proc Soc Exp Biol Med 220(3):162-8. [PubMed: 10193444] [MGI Ref ID J:53228]
Moriyama K; Bonifacino JS. 2002. Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles. Traffic 3(9):666-77. [PubMed: 12191018] [MGI Ref ID J:88020]
Nguyen T; Wei ML. 2004. Characterization of melanosomes in murine Hermansky-Pudlak syndrome: mechanisms of hypopigmentation. J Invest Dermatol 122(2):452-60. [PubMed: 15009730] [MGI Ref ID J:88797]
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 Ref ID J:78801]
Swank RT; Reddington M; Howlett O; Novak EK. 1991. Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha. Blood 78(8):2036-44. [PubMed: 1912584] [MGI Ref ID J:29151]
Zhang Q; Li W; Novak EK; Karim A; Mishra VS; Kingsmore SF; Roe BA; Suzuki T; Swank RT. 2002. The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking. Hum Mol Genet 11(6):697-706. [PubMed: 11912185] [MGI Ref ID J:75830]
Currently there no information available for this strain. This may be due to the supply level of this strain.
| Pricing for USA, Canada and Mexico shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
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Purchasing Information
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