Mice homozygous for the muted spontaneous mutation (Bloc1s5mu) 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 (Bloc1s6pa). 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.
|Allele Type||Spontaneous (Hypomorph)|
|Allele Synonym(s)||muted; Bloc1s5mu|
|Gene Symbol and Name||Bloc1s5, biogenesis of lysosomal organelles complex-1, subunit 5, muted|
|Gene Synonym(s)||BLOC-1 subunit; BLOS5; 1810074A19Rik; mu; MU; 1810074A19Rik; RIKEN cDNA 1810074A19 gene; muted; Muted; MUTED; mu; Muted|
|Strain of Origin||STOCK t|
|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.|
|Allele Name||white bellied agouti Jackson|
|Allele Synonym(s)||white bellied agouti Jackson; Aw-J|
|Gene Symbol and Name||a, nonagouti|
|Gene Synonym(s)||agouti signal protein; As; ASP; As; agouti; agouti suppressor; AGTI; SHEP9; AGSW; AGTIL|
|Strain of Origin||C57BL/6J|
|Heterozygous for Muted<mu|
We will fulfill your order by providing at least two carriers for each strain ordered. The total number, sex, and genotypes provided will vary, although typically 8 or more animals are provided. Please check genotypes which will be recovered. While the genotypes of all animals produced will be communicated to you prior to scheduling shipment, the genotypes of animals provided may not reflect the mating scheme and genotypes described in the strain description. Animals are typically ready to ship in 11-14 weeks. If a second recovery is required to produce the minimum number of animals, then delivery time would increase to approximately 25 weeks. If we fail to produce animals of the correct genotype, you will not be charged. We cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.
Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation.
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