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Strain Name:

B6C3 Aw-J/A-Mutedmu/J

Stock Number:

000505

Availability:

Repository-Cryopreserved


General Terms and Conditions

Former Name      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 )
Genes & Alleles   Aw-J;   Muted;   Mutedmu;   a;


Product Information

Strain Details

Type JAX® GEMM® Strain - Mutant Strain
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Spontaneous Mutation
Specieslaboratory mouse
GenerationN4F3 N1p

Strain 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.

Related Disease (OMIM) Terms

Hermansky-Pudlak Syndrome; HPS
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 platelet aggregation induced by collagen
    • reduced secretion of glucuronidase and serotonin in response to thrombin although serotonin secretion in the absence of thrombin was high
    • decreased platelet serotonin level (MGI Ref ID J:29151)
      • serotonin levels in platelets 8% of control levels
  • increased bleeding time (MGI Ref ID J:29151)
    • greater than 15 minutes
  • platelet storage pool deficiency (MGI Ref ID J:29151)
    • no releasable ATP
  • 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 platelet aggregation induced by collagen
    • reduced secretion of glucuronidase and serotonin in response to thrombin although serotonin secretion in the absence of thrombin was high
    • decreased platelet serotonin level (MGI Ref ID J:29151)
      • serotonin levels in platelets 8% of control levels
  • platelet storage pool deficiency (MGI Ref ID J:29151)
    • no releasable ATP

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)
    • abnormal platelet physiology (MGI Ref ID J:29151)
      • decreased aggregation both in the presence of high or low concentrations of collagen
      • decreased platelet serotonin level (MGI Ref ID J:29151)
        • platelet serotonin levels are less than 8% those of normal
    • platelet storage pool deficiency (MGI Ref ID J:29151)
      • platelets nearly absent of dense granules and very little releasable ATP is detected when low or high levels of collagen are added to platelets from homozygotes
  • homeostasis/metabolism phenotype
  • abnormal platelet physiology (MGI Ref ID J:29151)
    • decreased aggregation both in the presence of high or low concentrations of collagen
    • decreased platelet serotonin level (MGI Ref ID J:29151)
      • platelet serotonin levels are less than 8% those of normal
  • increased bleeding time (MGI Ref ID J:29151)
    • bleed time is greater than 15 minutes
  • platelet storage pool deficiency (MGI Ref ID J:29151)
    • platelets nearly absent of dense granules and very little releasable ATP is detected when low or high levels of collagen are added to platelets from homozygotes
  • 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

Gene & Allele Details

Allele Symbol Aw-J
Allele Name white bellied agouti Jackson
Common Name(s) AWJ;
Strain of OriginC57BL/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
Common Name(s) mu;
Strain of OriginSTOCK 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]

Genotyping Protocols

Aw-J

Related Strains

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
003301   (C57BL/6J x C3H-Eya1bor)F1/J
000251   AEJ.Cg-ae +/a Gdf5bp-H/J
000202   AEJ/Gn-bd/J
000199   AEJ/GnLeJ
000427   B10.CE-H13b Aw/(30NX)SnJ
000420   B10.LP-H13b Aw/Sn
000477   B10.PA-Pldnpa H3e at/SnJ
000419   B10.UW-H3b we Pax1un at/SnJ
003879   B10;TFLe-a/a T tf/+ tf/J
001538   B6 x B6C3Sn a/A-T(1;9)27H/J
000916   B6 x B6C3Sn a/A-T(5;12)31H/J
000602   B6 x B6C3Sn a/A-T(8;16)17H/J
002083   B6 x B6EiC3 a/A-T(7;16)235Dn/J
000507   B6 x B6EiC3 a/A-Otcspf/J
000618   B6 x FSB/GnEi a/a Ctslfs/J
000577   B6 x STOCK a Oca2p Hps5ru2 Ednrbs/J
000601   B6 x STOCK a/a T(7;18)50H/J
000592   B6 x STOCK T(2;4)13H a/J
000769   B6.C/(HZ18)By-at-44J/J
000001   B6.C3 A/a Mgrn1md/J
000203   B6.C3-Aiy/a/J
000017   B6.C3Fe-Avy/J
000628   B6.CE-A Amy1b Amy2b/J
005505   B6.Cg-Ay Slc7a11sut/LmLlp
000021   B6.Cg-Ay/J
001572   B6.Cg-am-J/J
004200   B6;CBACa Aw-J/A-Npr2cn-2J/J
000785   B6;D2-a Es1e/J
000604   B6C3 a/A-T(10;13)199H +/+ Lystbg-J/J or Lystbg-2J/J
002807   B6C3Fe a/a-Meox2fla/J
000224   B6C3Fe a/a-Scyl1mdf/J
001037   B6C3Fe a/a-Agtpbp1pcd/J
000221   B6C3Fe a/a-Alx4lst-J/J
002062   B6C3Fe a/a-Atp7aMo-8J/J
001756   B6C3Fe a/a-Cacng2stg/J
001815   B6C3Fe a/a-Col1a2oim/J
000231   B6C3Fe a/a-Csf1op/J
000209   B6C3Fe a/a-Dh/J
000211   B6C3Fe a/a-Dstdt-J/J
000210   B6C3Fe a/a-Edardl-J/J
000207   B6C3Fe a/a-Edaraddcr/J
000182   B6C3Fe a/a-Eef1a2wst/J
001278   B6C3Fe a/a-Glra1spd/J
000241   B6C3Fe a/a-Glrbspa/J
002875   B6C3Fe a/a-Hoxd13spdh/J
000304   B6C3Fe a/a-Krt71Ca Scn8amed-J/J
000226   B6C3Fe a/a-Largemyd/J
000636   B6C3Fe a/a-Lmx1adr-J/J
001280   B6C3Fe a/a-Lse/J
001573   B6C3Fe a/a-MitfMi/J
001035   B6C3Fe a/a-Napahyh/J
000181   B6C3Fe a/a-Otogtwt/J
000278   B6C3Fe a/a-Papss2bm Hps1ep Hps6ru/J
000205   B6C3Fe a/a-Papss2bm/J
002078   B6C3Fe a/a-Pcdh15av-2J/J
000246   B6C3Fe a/a-Pitpnavb/J
001430   B6C3Fe a/a-Ptch1mes/J
000506   B6C3Fe a/a-Qkqk/J
000235   B6C3Fe a/a-Relnrl/J
000237   B6C3Fe a/a-Rorasg/J
000290   B6C3Fe a/a-Sox10Dom/J
000230   B6C3Fe a/a-Tcirg1oc/J
003612   B6C3Fe a/a-Trak1hyrt/J
001512   B6C3Fe a/a-Ttnmdm/J
001607   B6C3Fe a/a-Unc5crcm/J
000005   B6C3Fe a/a-Wc/J
000243   B6C3Fe a/a-Wnt1sw/J
000248   B6C3Fe a/a-Xpl/J
001750   B6C3Fe a/a-XsJ/J
000624   B6C3Fe a/a-anx/J
003020   B6C3Fe a/a-dep/J
002018   B6C3Fe a/a-din/J
002339   B6C3Fe a/a-nma/J
000240   B6C3Fe a/a-soc/J
000063   B6C3Fe a/a-sy/J
001055   B6C3Fe a/a-tip/J
000245   B6C3Fe a/a-tn/J
000065   B6C3Fe a/a-we Pax1un at/J
000296   B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
000019   B6C3Fe-a/a-Itpr1opt/J
001022   B6C3FeF1/J a/a
001752   B6CBCa Aw-J/A-T(7;15)9H/J
000971   B6EiC3 a/A-Och/J
000551   B6EiC3 a/A-Tbx15de-H/J
006450   B6EiC3 a/A-Vss/J
000557   B6EiC3-+ a/LnpUl A/J
000504   B6EiC3Sn a/A-Cacnb4lh/J
000553   B6EiC3Sn a/A-Egfrwa2 Wnt3avt/J
000503   B6EiC3Sn a/A-Gy/J
001811   B6EiC3Sn a/A-Otcspf-ash/J
002343   B6EiC3Sn a/A-Otcspf/J
000391   B6EiC3Sn a/A-Pax6Sey-Dey/J
001924   B6EiC3Sn a/A-Ts(1716)65Dn
001923   B6EiC3Sn a/A-Ts(417)2Lws Tim/J
000200   C3FeB6 A/Aw-J-Ankank/J
000638   C3FeB6 A/Aw-J-Spnb4qv-J/J
000225   C3FeLe.B6 a/a-Ptpn6me/J
000198   C3FeLe.B6-a/J
000291   C3FeLe.Cg-a/a Hm KitlSl Krt71Ca-J/J
001272   C3H/HeSnJ-Ahvy/J
000099   C3HeB/FeJ-Avy/J
001886   C3HeB/FeJLe a/a-gnd/J
000584   C57BL/6J-+ T(1;2)5Ca/a +/J
000258   C57BL/6J-Ai/a/J
000774   C57BL/6J-Asy/a/J
000055   C57BL/6J-at-33J/J
000070   C57BL/6J-atd/J
000284   CWD/LeJ
000670   DBA/1J
000671   DBA/2J
001057   HPT/LeJ
000260   JGBF/LeJ
002468   KK.Cg-Ay/J
000262   LS/LeJ
000283   LT.CAST-A/J
000265   MY/HuLeJ
000308   SSL/LeJ
001759   STOCK A Tyrc Sha/J
001427   STOCK Aw us/J
000994   STOCK a Myo5ad Mregdsu/J
000064   STOCK a Tyrp1b Sisi/J
002238   STOCK a Tyrp1b shmy/J
001433   STOCK a skt/J
000579   STOCK a tp/J
000319   STOCK a us/J
002648   STOCK a/a Cln6nclf/J
000317   STOCK a/a Egfrwa2/J
000302   STOCK a/a MitfMi-wh +/+ Itpr1opt/J
000286   STOCK a/a Myo5ad fd/+ +/J
000206   STOCK a/a Tyrc-h/J
001432   STOCK a/a Tyrp1b sks/Tyrp1b +/J
000281   STOCK a/a ma ft/ma ft/J
000312   STOCK stb + a/+ Fignfi a/J
000596   STOCK T(2;11)30H/+ x AEJ-a Gdf5bp-H/J or A/J-a Gdf5bp-J/J
000970   STOCK T(2;16)28H A/T(2;16)28H a/J
000590   STOCK T(2;4)1Sn a/J
000594   STOCK T(2;8)26H a/T(2;8)26H a Tyrp1+/Tyrp1b/J
000623   TR/DiEiJ
View Strains carrying other alleles of a     (138 strains)

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

References

Selected Reference(s)

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]

Additional References

Price and Supply Information

Strain Name: B6C3 Aw-J/A-Mutedmu/J
Stock Number: 000505

Price Details

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Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes Cryorecovery - Standard.
The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.

LicensingSee General Terms and Conditions below  

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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.
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