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Strain Name: |
B6C3 Aw-J/A-Mutedmu/J |
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Stock Number: |
000505 |
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Availability:
| Repository-Cryopreserved |
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| Former Name |
B6C3-Aw-J/A-Mutedmu/+ (Changed: 15-DEC-04
)
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B6C3 AJ/A-Mutedmu/J (Changed: 15-DEC-04
)
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B6C3H-Aw-J/A-mu/+ (Changed: 15-DEC-04
)
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| Genes & Alleles |
Aw-J;
Muted;
Mutedmu;
a;
|
Product Information
Strain Details
| Type |
JAX® GEMM® Strain -
Mutant Strain |
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| Additional information on
JAX® GEMM® Strains. |
| Type |
JAX® GEMM® Strain -
Spontaneous Mutation |
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| Species | laboratory mouse |
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| Generation | N4F3 N1p
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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 |
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)
- 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)
- platelet storage pool deficiency
(MGI Ref ID J:29151)
- 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)
- 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)
Mutedmu/Mutedmu
CHMU/Le
- hematopoietic system phenotype
- *normal* hematopoietic system phenotype
(MGI Ref ID J:29151)
- 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 |
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| Allele Name |
white bellied agouti Jackson |
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| Common Name(s) |
AWJ;
|
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| Strain of Origin | C57BL/6J |
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| Gene Symbol and Name |
a, nonagouti |
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| Chromosome |
2 |
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| Gene Common Name(s) |
AGSW;
AGTI;
AGTIL;
ASP;
As;
MGC126092;
MGC126093;
SHEP9;
agouti;
agouti signal protein;
agouti suppressor;
|
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| |
| Allele Symbol |
Mutedmu |
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| Allele Name |
muted |
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| Common Name(s) |
mu;
|
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| Strain of Origin | STOCK t |
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| Gene Symbol and Name |
Muted, muted |
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| Chromosome |
13 |
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| Gene Common Name(s) |
1810074A19Rik;
BLOC-1 subunit;
DKFZp686E2287;
MU;
RIKEN cDNA 1810074A19 gene;
mu;
|
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| 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]
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Genotyping Protocols
Aw-J
Related Strains
Strains carrying Aw-J allele
View Strains carrying Aw-J (31 strains)
Strains carrying Mutedmu allele
View Strains carrying Mutedmu (1 strain)
Strains carrying other alleles of a
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 Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information. |
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| 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.
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| Licensing | See General Terms and Conditions below
|
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View
JAX® Mice & Services Conditions of Use.
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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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