Strain Name:

STOCK a Tyrp1b Pmelsi/J

Stock Number:

000064

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Availability:

Cryopreserved - Ready for recovery

Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Former Names STOCK a Tyrp1b Sisi/J    (Changed: 07-MAR-11 )
STOCK a Tyrp1b Si/J    (Changed: 16-JUN-05 )
STOCK a Tyrp1b si    (Changed: 15-DEC-04 )
Type Mutant Stock; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
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Specieslaboratory mouse
GenerationpF4p
Generation Definitions

Appearance
black with varying amounts of silver hairs
Related Genotype: a/a, Tyrp1b/Tyrp1b Sisi/Sisi or a/a Tyrp1b/+, Sisi/Sisi

Description
Several proteins have been characterized as being critical for melanogenesis, including tyrosinase and its related proteins tyrosinase related protein 1 and 2 (TRP-1 and TRP-2). The silver locus protein (SI) is also crucial to the normal melanogenic pathway and it is believed that the interactions of these, and probably other, proteins are necessary for proper melanin pigment production within melanocytes. Nonagouti mice (a/a) homozygous for the recessive si mutation display a range of coat color variations, including all black and all white. Also, single hairs can be both black and white as the tips contain no pigment while the base retains pigmentation. Black and white banding patterns in individual hairs is also observed. It is noted that similar si/si hair color variation is also seen on the agouti background. Young a/a mice typically have black hairs, with some silver/grey hair present on the head, behind the ears and around the posterior. The hair generally becomes progressively lighter with age, with the males displaying more silvering than the females. The silver mutation causes a graying of hair because the follicular melanocytes become dysfunctional and eventually die. Variations in the silvering of the coat color reflect an overall reduction in the number or total lack of melanocytic pigment granules. The loss of these melanocytes, in fact, co-localizes with hypopigmented hair follicles. Also, reduced viability of si/si melanocytes is observed in vitro where these cultured cells exhibit very slow growth rates and have a reduced life span compared to similarly prepared wild type melanocytes.

Functionally, two general activities have been linked to GP87. First, this protein has been reported to be a stabilizing structural matrix glycoprotein in cultured B16 murine melanoma cells as the carboxy-terminus contains an epitope that is recognized by the anti-melanosomal matrix protein antibody alpha-MX. The protein is exclusively restricted to the melanosomal compartment itself as shown by Western blotting of sub-cellular fractions, but is not detected in coated vesicles that shuttle tyrosinase-related proteins to melanosomes. Therefore, the trafficking of the silver protein is distinct. The predicted protein product of GP87 contains a single potential transmembrane domain but based on detergent solubility studies, the protein is likely to be loosely associated with the melanosomal matrix, or contained near the inner aspects of the organelle membrane, or even free in the space between the matrix and membrane. This is in contrast to the subcellular localization of TRP-1 and TRP-2, which are known integral membrane proteins. GP87 is rapidly synthesized and delivered to the melanosomes. Soon after, the protein is processed to lose its C-terminus, as shown through specific reactivity by using a peptide that recognizes this epitope (alpha PEP13). It is not clear what function this post-translational step plays in the normal melanosome but by acting as a structural component, the silver protein could restrict melanogenesis to the appropriate intracellular compartment and 1) protect the cells from toxic melanogenic metabolites such as 5,6-dihydroxyindole and/or 2) stabilize melanin metabolites such as dihydroxyindoles and indolequinones. The silver protein has also been proposed to have an enzymatic role in catalyzing melanin formation through the polymerization of 5,6-dihydroxyindole-2-carboxylic acid (DHICA). Melanin synthesis via the enzymatic conversion of DHICA was found to be mediated by the silver protein through an immunopurification assay conducted on extracts from cultured Cloudman S91 mouse melanoma cells.

Based on primary sequence analysis, the protein product of the si allele is predicted to be mistargeted within melanocytes. Direct evidence for this comes from melan-Si cells (Tyrp1b/+ Sisi/Sisi). These si/si cells express the mutant protein abnormally outside of the melanosome/pre-melanosome in the soluble fraction where the protein appears degraded or in aggregates. The mutant silver protein, therefore, is misrouted within si/si melanosomes. Interestingly, tyrosinase also is not normally localized within the melan-Si cells. Disrupted protein distribution in the silver mutant melanosomes likely results in a lack of the formation of functional melanogenic complexes containing GP87, tyrosinase and TRPs. While it is not clear what leads to si/si melanocyte death, it could be due to cytotoxic events induced by the mutation that causes the release of toxic melanin precursors. The chemical properties of melanins found in Si hair pigment granules were quantified by high-performance liquid chromatography and spectrophotometric assays measuring levels of pyrrole-2,3,5-tricarboxylic acid (PTCA), aminohydroxyphenylalanine (AHP), spectrophotometric eumelanin (SE), spectrophotometric pheomelanin (SP) and alkali-soluble melanins. The chemical properties of silver hair-derived melanins are similar to brown and light hair melanins but as expected, the total melanin content is much lower compared to black hair melanins (reduced by one-fifth to one-tenth). Chemical characterization of the pigment forms found in silver melanins revealed a partial suppression of eumelanogenesis similar to that seen in the brown hair locus mutants (encoding tyrosinase-related protein 1).

Follicular melanocytes of silver mice are more susceptible to damage resulting from X-irradiation. Since human GP100 is an antigenic marker for a variety of human melanomas that can be recognized by CD8+ T lymphocytes, the silver mutant might serve as a model to experimentally test for potential immunotherapies. (Dunn and Thigpen, 1930; Spanakis et al., 1992; Ozeki et al., 1995; Lamoreux et al., 2001; Kwon et al., 1995; Martinez-Esparza et al., 1999; Zhou et al., 1994; Kobayashi et al., 1994; Solano et al., 2000; Chakraborty et al., 1996; Berson et al., 2001; Martinez-Esparza et al., 2000b; Cormier et al., 1998).

Development
This "silver grey" stock was acquired by Dunn and Thigpen (Dunn and Thigpen 1930) in 1927 from a single pair of mice from the house mouse colony, where the mutation arose, maintained by English fancier William Turton. Silver (Dunn-MacDowell-Gowen) was subsequently maintained in LGW inbred mice at Iowa State University and was bred into the linkage stock carrying Pcdh15av/Pcdh15av, Sisi/Sisi, Tyrp1b/+, ae/ae (RH Schaible, 1957). Pcdh15av is a mutation that arose on the K strain in 1955 and linkage with the silver locus was demonstrated (RH Schaible, 1961); extreme non-agouti, ae, appeared in mice descending from x-ray mutagenized male breeders of the S strain (Hollander and Gowen, 1956). In 1963, this "av" linkage stock was imported from RH Schaible to the Jackson Laboratory where mice were sibling mated for 14 generations. A single outcross to C57BL/10Gn occurred in 1968 and mice were sibling mating thereafter; Pcdh15av has not been detected in this stock since the outcross. In 1979 at about F50, males from this strain (a/a, Tyrp1b/Tyrp1b, Sisi/Sisi) were outcrossed to female B6C3Fe-a/a F1 mice for frozen embryo storage. In 1987, B6C3Fe-a/a X STOCK a Tyrp1b Sisi embryos were thawed and a live stock reconstituted. These mice were sibling mated [F1p] F3 through F5 to generate additional embryo stocks in 1988. Either of these sets of frozen stocks may be used to reconstitute this strain. Embryos are homozygous for both the silver mutation and a, and segregate for the Tyrp1b allele.

Related Strains

Strains carrying   Tyrp1b allele
000004   ABP/LeJ
000571   B6.Cg-Whrnwi Tyrp1b/+ +/J
000027   B6.D-Tyrp1b Dock7m/J
000670   DBA/1J
000265   MY/HuLeJ
001045   SI/Col Tyrp1b Dnah11iv/J
002238   STOCK a Tyrp1b shmy/J
001432   STOCK a/a Tyrp1b Ndc1sks/Tyrp1b +/J
000594   STOCK T(2;8)26H a/T(2;8)26H a Tyrp1+/Tyrp1b/J
001101   STOCK T(3;4)5Rk Tyrp1b/J
View Strains carrying   Tyrp1b     (10 strains)

Strains carrying   a allele
003879   B10;TFLe-a/a T Itpr3tf/+ Itpr3tf/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
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
014608   B6;129S1-a Kitlsl-24J/GrsrJ
000231   B6;C3Fe a/a-Csf1op/J
000785   B6;D2-a Ces1ce/EiJ
000604   B6C3 a/A-T(10;13)199H +/+ Lystbg-J/J or Lystbg-2J/J
001750   B6C3Fe a/a-Eif3cXs-J/J
002807   B6C3Fe a/a-Meox2fla/J
000506   B6C3Fe a/a-Qkqk-v/J
000224   B6C3Fe a/a-Scyl1mdf/J
003020   B6C3Fe a/a-Zdhhc21dep/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
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
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
000624   B6C3Fe a/a-anx/J
008044   B6C3Fe a/a-bpck/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
000296   B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
000019   B6C3Fe-a/a-Itpr1opt/J
001022   B6C3FeF1/J a/a
006450   B6EiC3 a/A-Vss/GrsrJ
000971   B6EiC3 a/A-Och/J
000551   B6EiC3 a/A-Tbx15de-H/J
000557   B6EiC3-+ a/LnpUl A/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
001923   B6EiC3Sn a/A-Ts(417)2Lws TimT(4;17)3Lws/J
000225   C3FeLe.B6 a/a-Ptpn6me/J
000198   C3FeLe.B6-a/J
000291   C3FeLe.Cg-a/a Hm KitlSl Krt71Ca-J/J
001886   C3HeB/FeJLe a/a-gnd/J
000584   C57BL/6J-+ T(1;2)5Ca/a +/J
000284   CWD/LeJ
000670   DBA/1J
000671   DBA/2J
001057   HPT/LeJ
000260   JGBF/LeJ
000265   MY/HuLeJ
000308   SSL/LeJ
000994   STOCK a Myo5ad Mregdsu/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
000281   STOCK a/a Tmem79ma Flgft/J
000206   STOCK a/a Tyrc-h/J
001432   STOCK a/a Tyrp1b Ndc1sks/Tyrp1b +/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   a     (102 strains)

Strains carrying other alleles of Tyrp1
000957   AKXD28/TyJ
000093   B6.B10(D1)-Tyrp1b-c/J
008684   B6.Cg-Rag1tm1Mom Tyrp1B-w Tg(Tcra,Tcrb)9Rest/J
017764   B6Ei.LT-Y(IsXPAR;Y)Ei Tyrp1B-lt/EiJ
000068   C57BL/6J-Tyrp1b-J/J
000671   DBA/2J
006252   LT/SvEiJ
002142   STOCK 11R30m/J
000594   STOCK T(2;8)26H a/T(2;8)26H a Tyrp1+/Tyrp1b/J
View Strains carrying other alleles of Tyrp1     (9 strains)

Strains carrying other alleles of a
002655   Mus pahari/EiJ
000251   AEJ.Cg-ae +/a Gdf5bp-H/J
000202   AEJ/Gn-bd/J
000199   AEJ/GnLeJ
000433   B10.C-H3c H13? A/(28NX)SnJ
000427   B10.CE-H13b Aw/(30NX)SnJ
000423   B10.KR-H13? A/SnJ
000420   B10.LP-H13b Aw/Sn
000477   B10.PA-Bloc1s6pa H3e at/SnJ
000419   B10.UW-H3b we Pax1un at/SnJ
000593   B6 x B6CBCa Aw-J/A-Grid2Lc T(2;6)7Ca MitfMi-wh/J
000502   B6 x B6CBCa Aw-J/A-Myo5aflr Gnb5flr/J
000599   B6 x B6CBCa Aw-J/A-T(5;13)264Ca KitW-v/J
002083   B6 x B6EiC3 a/A-T(7;16)235Dn/J
000507   B6 x B6EiC3 a/A-Otcspf/J
003759   B6 x B6EiC3Sn a/A-T(10;16)232Dn/J
002071   B6 x B6EiC3Sn a/A-T(11;17)202Dn/J
002113   B6 x B6EiC3Sn a/A-T(11A2;16B3)238Dn/J
002068   B6 x B6EiC3Sn a/A-T(11B1;16B5)233Dn/J
002069   B6 x B6EiC3Sn a/A-T(14E4or5;16B5)225Dn/J
001926   B6 x B6EiC3Sn a/A-T(15;16)198Dn/J
001832   B6 x B6EiC3Sn a/A-T(15E;16B1)60Dn/J
003758   B6 x B6EiC3Sn a/A-T(16C3-4;17A2)65Dn/J
001833   B6 x B6EiC3Sn a/A-T(1C2;16C3)45Dn/J
001903   B6 x B6EiC3Sn a/A-T(6F;18C)57Dn/J
001535   B6 x B6EiC3Sn a/A-T(8A4;12D1)69Dn/J
001831   B6 x B6EiC3Sn a/A-T(8C3;16B5)164Dn/J
002016   B6(Cg)-Aw-J EdaTa-6J Chr YB6-Sxr/EiJ
000600   B6-Gpi1b x B6CBCa Aw-J/A-T(7;15)9H Gpi1a/J
000769   B6.C/(HZ18)By-at-44J/J
000203   B6.C3-Aiy/a/J
000017   B6.C3-Avy/J
001572   B6.C3-am-J/J
000628   B6.CE-A Amy1b Amy2a5b/J
001809   B6.Cg-Aw-J EdaTa-6J +/+ ArTfm/J
000552   B6.Cg-Aw-J EdaTa-6J Sxr
001730   B6.Cg-Aw-J EdaTa-6J Sxrb Hya-/J
000841   B6.Cg-Aw-J EdaTa-By/J
000021   B6.Cg-Ay/J
100409   B6129PF1/J-Aw-J/Aw
004200   B6;CBACa Aw-J/A-Npr2cn-2J/GrsrJ
000505   B6C3 Aw-J/A-Bloc1s5mu/J
000604   B6C3 a/A-T(10;13)199H +/+ Lystbg-J/J or Lystbg-2J/J
000065   B6C3Fe a/a-we Pax1un at/J
003301   B6C3FeF1 a/A-Eya1bor/J
000314   B6CBACa Aw-J/A-EdaTa/J-XO
000501   B6CBACa Aw-J/A-Aifm1Hq/J
001046   B6CBACa Aw-J/A-Grid2Lc/J
000500   B6CBACa Aw-J/A-Gs/J
002703   B6CBACa Aw-J/A-Hydinhy3/J
000247   B6CBACa Aw-J/A-Kcnj6wv/J
000287   B6CBACa Aw-J/A-Plp1jp EdaTa/J
000515   B6CBACa Aw-J/A-SfnEr/J
000242   B6CBACa Aw-J/A-spc/J
000288   B6CBACa Aw-J/A-we a Mafbkr/J
001201   B6CBACaF1/J-Aw-J/A
006450   B6EiC3 a/A-Vss/GrsrJ
000557   B6EiC3-+ a/LnpUl A/J
000504   B6EiC3Sn a/A-Cacnb4lh/J
000553   B6EiC3Sn a/A-Egfrwa2 Wnt3avt/J
001811   B6EiC3Sn a/A-Otcspf-ash/J
002343   B6EiC3Sn a/A-Otcspf/J
001923   B6EiC3Sn a/A-Ts(417)2Lws TimT(4;17)3Lws/J
001875   B6EiC3SnF1/J
000638   C3FeB6 A/Aw-J-Sptbn4qv-J/J
000200   C3FeB6 A/Aw-J-Ankank/J
001203   C3FeB6F1/J A/Aw-J
001272   C3H/HeSnJ-Ahvy/J
000099   C3HeB/FeJ-Avy/J
000338   C57BL/6J Aw-J-EdaTa-6J/J
000258   C57BL/6J-Ai/a/J
000774   C57BL/6J-Asy/a/J
000569   C57BL/6J-Aw-J-EdaTa +/+ ArTfm/J
000051   C57BL/6J-Aw-J/J
000055   C57BL/6J-at-33J/J
000070   C57BL/6J-atd/J
002468   KK.Cg-Ay/J
000262   LS/LeJ
000283   LT.CAST-A/J
001759   STOCK A Tyrc Sha/J
001427   STOCK Aw us/J
001145   WSB/EiJ
View Strains carrying other alleles of a     (82 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Albinism, Oculocutaneous, Type III; OCA3   (TYRP1)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Pmelsi/Pmelsi

        STOCK a Tyrp1b Pmelsi/J
  • pigmentation phenotype
  • *normal* pigmentation phenotype
    • mice exhibit wild-type iris pigmentation   (MGI Ref ID J:141035)

The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.

Pmelsi/Pmelsi

        Background Not Specified
  • pigmentation phenotype
  • irregular coat pigmentation
    • random inviability of melanoblasts in hair follicles results in mice that are variegated for white, partially pigmented (gray) hairs, and fully pigmented hairs   (MGI Ref ID J:78801)
    • other pigment loci influence appearance: nonagouti mice display silvering more on the belly than on the back and become more silvery with age, with nonagouti and brown, mice display fewer white and partially white hairs, and with agouti the yellow band at the tip of hairs is not affected but the base of each hair is lightened creating a whiteish "underfur" and silvering decreases with age   (MGI Ref ID J:78801)
    • the merle pigment pattern is difficult to classify in different crosses   (MGI Ref ID J:13051)
  • reduced hair shaft melanin granule number
    • the basis for variable silvering of the coat   (MGI Ref ID J:13051)
  • homeostasis/metabolism phenotype
  • *normal* homeostasis/metabolism phenotype
    • no aberrant bleeding time after tail vein nick   (MGI Ref ID J:29151)
  • hematopoietic system phenotype
  • *normal* hematopoietic system phenotype
    • NORMAL: bleeding time is normal   (MGI Ref ID J:29151)
  • integument phenotype
  • irregular coat pigmentation
    • random inviability of melanoblasts in hair follicles results in mice that are variegated for white, partially pigmented (gray) hairs, and fully pigmented hairs   (MGI Ref ID J:78801)
    • other pigment loci influence appearance: nonagouti mice display silvering more on the belly than on the back and become more silvery with age, with nonagouti and brown, mice display fewer white and partially white hairs, and with agouti the yellow band at the tip of hairs is not affected but the base of each hair is lightened creating a whiteish "underfur" and silvering decreases with age   (MGI Ref ID J:78801)
    • the merle pigment pattern is difficult to classify in different crosses   (MGI Ref ID J:13051)
  • reduced hair shaft melanin granule number
    • the basis for variable silvering of the coat   (MGI Ref ID J:13051)
View Research Applications

Research Applications
This mouse can be used to support research in many areas including:

Pmelsi related

Dermatology Research
Color and White Spotting Defects

Tyrp1b related

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Pmelsi
Allele Name silver
Allele Type Spontaneous
Common Name(s) Pmel 17; gp100; gp87; si; silver;
Gene Symbol and Name Pmel, premelanosome protein
Chromosome 10
Gene Common Name(s) D10H12S53E; D12S53E; D12S53Eh; DNA segment, Chr 10, human D12S53E; ME20; ME20-M; ME20M; P1; P100; PMEL17; SI; SIL; SILV; Si; gp100; gp87; silver;
General Note This mutation arose in an unspecified English fancy stock.
Molecular Note Sequencing of partial gp87 cDNA from homozygous mutant melanocytes showed this mutation comprises a G to A substitution at base 1808, resulting in a premature stop codon and truncation of the protein in the C-terminal cystolic domain. [MGI Ref ID J:22779] [MGI Ref ID J:58687]
 
Allele Symbol Tyrp1b
Allele Name brown
Allele Type Spontaneous
Common Name(s) b;
Strain of Originold mutant of the mouse fancy
Gene Symbol and Name Tyrp1, tyrosinase-related protein 1
Chromosome 4
Gene Common Name(s) B; CAS2; CATB; GP75; OCA3; TRP; TRP-1; TRP1; TYRP; Tyrp; b; b-PROTEIN; brown; iris stromal atrophy; isa; tyrosinase-related protein;
Molecular Note A G-to-A transition point mutation at position 329 was shown by revertant analysis to be responsible for the mutant phenotype seen in the brown mutant. This mutation is predicted to change a cysteine residue to a tyrosine in the encoded protein. Three other point mutations in the brown sequence were identified, but do not contribute to the mutant phenotype. [MGI Ref ID J:44435]
 
Allele Symbol a
Allele Name nonagouti
Allele Type Spontaneous
Strain of Originold mutant of the mouse fancy
Gene Symbol and Name a, nonagouti
Chromosome 2
Gene Common Name(s) AGSW; AGTI; AGTIL; ASP; As; SHEP9; agouti; agouti signal protein; agouti suppressor;
General Note Phenotypic Similarity to Human Syndrome: Metabolic Syndrome in mice homozygous for Apoetm1Unc and heterozygous for Ay and a (J:177084)
Molecular Note Characterization of this allele shows an insertion of DNA comprised of a 5.5kb virus-like element, VL30, into the first intron of the agouti gene. The VL30 element itself contains an additional 5.5 kb sequence, flanked by 526 bp of direct repeats. The host integration site is the same as for at-2Gso and Aw-38J and includes a duplication of four nucleotides of host DNA and a deletion of 2 bp from the end of each repeat. Northern analysis of mRNA from skin of homozygotes shows a smaller agouti message and levels 8 fold lower than found in wild-type. [MGI Ref ID J:16984] [MGI Ref ID J:24934]

Genotyping

Genotyping Information


Helpful Links

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References

References provided by MGI

Additional References

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Pmelsi related

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a related

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Papacleovoulou G; Abu-Hayyeh S; Nikolopoulou E; Briz O; Owen BM; Nikolova V; Ovadia C; Huang X; Vaarasmaki M; Baumann M; Jansen E; Albrecht C; Jarvelin MR; Marin JJ; Knisely AS; Williamson C. 2013. Maternal cholestasis during pregnancy programs metabolic disease in offspring. J Clin Invest 123(7):3172-81. [PubMed: 23934127]  [MGI Ref ID J:201610]

Pettitt SJ; Liang Q; Rairdan XY; Moran JL; Prosser HM; Beier DR; Lloyd KC; Bradley A; Skarnes WC. 2009. Agouti C57BL/6N embryonic stem cells for mouse genetic resources. Nat Methods :. [PubMed: 19525957]  [MGI Ref ID J:149352]

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]

Poole TW. 1982. The agouti suppressor (As) coat color mutation in mice: developmental effects on the expression of agouti locus alleles. J Exp Zool 220(1):57-64. [PubMed: 7077265]  [MGI Ref ID J:6763]

Quevedo WC Jr.; Chase HB. 1958. An analysis of the light mutation of coat color in mice. J Morphol 102:329-345.  [MGI Ref ID J:13094]

Quevedo WC Jr; Holstein TJ. 1992. The shift from physiological genetics to molecular genetics in the study of mouse tyrosinase. Pigment Cell Res Suppl 2:57-60. [PubMed: 1409439]  [MGI Ref ID J:3852]

RUSSELL ES. 1949. A quantitative histological study of the pigment found in the coat-color mutants of the house mouse; interdependence among the variable granule attributes. Genetics 34(2):133-45. [PubMed: 18117146]  [MGI Ref ID J:148461]

Rakyan VK; Chong S; Champ ME; Cuthbert PC; Morgan HD; Luu KV; Whitelaw E. 2003. Transgenerational inheritance of epigenetic states at the murine Axin(Fu) allele occurs after maternal and paternal transmission. Proc Natl Acad Sci U S A 100(5):2538-43. [PubMed: 12601169]  [MGI Ref ID J:82396]

Rice RH; Bradshaw KM; Durbin-Johnson BP; Rocke DM; Eigenheer RA; Phinney BS; Sundberg JP. 2012. Differentiating inbred mouse strains from each other and those with single gene mutations using hair proteomics. PLoS One 7(12):e51956. [PubMed: 23251662]  [MGI Ref ID J:195664]

Rosenfeld CS; Sieli PT; Warzak DA; Ellersieck MR; Pennington KA; Roberts RM. 2013. Maternal exposure to bisphenol A and genistein has minimal effect on A(vy)/a offspring coat color but favors birth of agouti over nonagouti mice. Proc Natl Acad Sci U S A 110(2):537-42. [PubMed: 23267115]  [MGI Ref ID J:193279]

Russell ES. 1948. A Quantitative Histological Study of the Pigment Found in the Coat Color Mutants of the House Mouse. II. Estimates of the Total Volume of Pigment. Genetics 33(3):228-36. [PubMed: 17247280]  [MGI Ref ID J:148462]

Russell ES. 1946. A Quantitative Histological Study of the Pigment Found in the Coat-Color Mutants of the House Mouse. I. Variable Attributes of the Pigment Granules. Genetics 31(3):327-46. [PubMed: 17247200]  [MGI Ref ID J:148463]

Russell ES. 1949. A Quantitative Histological Study of the Pigment Found in the Coat-Color Mutants of the House Mouse. IV. the Nature of the Effects of Genic Substitution in Five Major Allelic Series. Genetics 34(2):146-66. [PubMed: 17247308]  [MGI Ref ID J:12958]

Russell LB. 1964. Genetic and Functional Mosaicism in the Mouse. In: The Role of the Chromosomes in Development. Academic Press, New York.  [MGI Ref ID J:29504]

Russell LB; Cupp McDaniel MN; Woodiel FN,. 1963. Crossing over within the a "locus" of the mouse Genetics 48:907 Abstr.  [MGI Ref ID J:174047]

SILVERS WK. 1958. An experimental approach to action of genes at the agouti locus in the mouse. III. Transplants of newborn Aw-, A-and at-skin to Ay-, Aw-, A-and aa hosts. J Exp Zool 137(1):189-96. [PubMed: 13563791]  [MGI Ref ID J:13013]

Sakurai T; Ochiai H; Takeuchi T. 1975. Ultrastructural change of melanosomes associated with agouti pattern formation in mouse hair. Dev Biol 47(2):466-71. [PubMed: 1204945]  [MGI Ref ID J:5606]

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]

Soeller WC; Janson J; Hart SE; Parker JC; Carty MD; Stevenson RW; Kreutter DK; Butler PC. 1998. Islet amyloid-associated diabetes in obese A(vy)/a mice expressing human islet amyloid polypeptide. Diabetes 47(5):743-50. [PubMed: 9588445]  [MGI Ref ID J:133694]

Staats J. 1985. Standardized Nomenclature for Inbred Strains of Mice: eighth listing. Cancer Res 45(3):945-77. [PubMed: 3971387]  [MGI Ref ID J:50296]

Suto J. 2008. Coincidence of loci for glucosuria and obesity in type 2 diabetes-prone KK-Ay mice. Med Sci Monit 14(2):CR65-74. [PubMed: 18227763]  [MGI Ref ID J:131439]

Suto J. 2009. Identification of multiple quantitative trait loci affecting the size and shape of the mandible in mice. Mamm Genome 20(1):1-13. [PubMed: 19067046]  [MGI Ref ID J:143893]

Suto J; Matsuura S; Imamura K; Yamanaka H; Sekikawa K. 1998. Genetics of obesity in KK mouse and effects of A(y) allele on quantitative regulation. Mamm Genome 9(7):506-10. [PubMed: 9657845]  [MGI Ref ID J:48704]

Suwa A; Yoshino M; Yamazaki C; Naitou M; Fujikawa R; Matsumoto S; Kurama T; Shimokawa T; Aramori I. 2010. RMI1 deficiency in mice protects from diet and genetic-induced obesity. FEBS J 277(3):677-86. [PubMed: 20050919]  [MGI Ref ID J:168271]

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Tanaka S; Nishimura M; Matsuzawa A. 1994. Genetic association between agouti locus and adrenal X zone morphology in SM/J mice. Acta Anat (Basel) 149(3):170-3. [PubMed: 7976166]  [MGI Ref ID J:19308]

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Health & husbandry

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Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

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Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3300.00
Animals Provided

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 on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory 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. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $4290.00
Animals Provided

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 on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory 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. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

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Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.


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The Jackson Laboratory's Genotype Promise

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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JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.


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