Strain Name:

B6 x STOCK a Oca2p Hps5ru2 Ednrbs/J

Stock Number:

000577

Availability:

Repository-Cryopreserved

Description

Strain Information

Former Names B6 x STOCK a p Hps5ru2 Ednrbs/J    (Changed: 11-FEB-08 )
B6 x STOCK a p ru2 Ednrbs    (Changed: 15-DEC-04 )
Type Mutant Stock;
Additional information on Genetically Engineered Mutant Mice.
Specieslaboratory mouse
GenerationF27N1F1N1p

Development
The ruby-eye 2 mutant stock containing pink-eye (Oca2p) and piebald spotting (Ednrbs) was imported from Dr. B. Cattanach at Harwell in 1972. This strain was maintained by sibling matings and cryopreserved in 1982 by mating Oca2p Hps5ru2/Oca2p Hps5ru2 Ednrbs/Ednrbs males at generation F27N1F1 to C57BL/6J females.

Related Strains

Strains carrying   Ednrbs allele
000674   I/LnJ
000676   LP/J
000308   SSL/LeJ
000275   V/LeJ
View Strains carrying   Ednrbs     (4 strains)

Strains carrying   Oca2p allele
000004   ABP/LeJ
001059   B6By.Cg-Oca2p/J
000619   FS/EiJ
000306   STOCK Dll3pu + Tyrc-ch/+ Oca2p Tyrc-ch/J
001618   STOCK Oca2p/Oca2p Prop1df/J
View Strains carrying   Oca2p     (5 strains)

Strains carrying   a allele
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
000618   B6 x FSB/GnEi a/a Ctslfs/J
000601   B6 x STOCK a/a T(7;18)50H/J
000592   B6 x STOCK T(2;4)13H a/J
000001   B6.C3 A/a Mgrn1md/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
000296   B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J
000019   B6C3Fe-a/a-Itpr1opt/J
001022   B6C3FeF1/J a/a
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
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
000225   C3FeLe.B6 a/a-Ptpn6me/J
008425   C3FeLe.B6-a Trl/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
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   a     (103 strains)

Strains carrying other alleles of Ednrb
003295   B6;129-Ednrbtm1Ywa/J
000308   SSL/LeJ
004711   STOCK Ednrbs-52Pub
View Strains carrying other alleles of Ednrb     (3 strains)

Strains carrying other alleles of Hps5
000541   B6.D2-Hps5ru2-hz/J
000542   C57BL/6J-Hps5ru2-J/J
View Strains carrying other alleles of Hps5     (2 strains)

View Strains carrying other alleles of Oca2     (18 strains)

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
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
002016   B6(Cg)-Aw-J EdaTa-6J Chr YB6-Sxr/EiJ
000552   B6-Aw-J-EdaTa-6J.Cg-Sxr
001730   B6-Aw-J-EdaTa-6J.Cg-Sxrb Hya-/J
000841   B6-Aw-J.CBy-EdaTa-By/J
001809   B6-Aw-J.Cg-EdaTa-6J +/+ ArTfm/J
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
001572   B6.C3-am-J/J
000017   B6.C3Fe-Avy/J
000628   B6.CE-A Amy1b Amy2b/J
005505   B6.Cg-Ay Slc7a11sut/LmLlp
000021   B6.Cg-Ay/J
100409   B6129PF1/J-Aw-J/Aw
004200   B6;CBACa Aw-J/A-Npr2cn-2J/J
000505   B6C3 Aw-J/A-Mutedmu/J
000604   B6C3 a/A-T(10;13)199H +/+ Lystbg-J/J or Lystbg-2J/J
000065   B6C3Fe a/a-we Pax1un at/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
001752   B6CBCa Aw-J/A-T(7;15)9H/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
001811   B6EiC3Sn a/A-Otcspf-ash/J
002343   B6EiC3Sn a/A-Otcspf/J
001923   B6EiC3Sn a/A-Ts(417)2Lws Tim/J
000200   C3FeB6 A/Aw-J-Ankank/J
000638   C3FeB6 A/Aw-J-Spnb4qv-J/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
View Strains carrying other alleles of a     (67 strains)

Phenotype

Phenotype Information

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.

Hps5ru2/Hps5ru2

        C57BL
  • pigmentation phenotype
  • diluted coat color (MGI Ref ID J:20282)
    • described as similar to the ruby-eye (ru) mutation
  • skin/coat/nails phenotype
  • diluted coat color (MGI Ref ID J:20282)
    • described as similar to the ruby-eye (ru) mutation
View Research Applications

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

Ednrbs related

Dermatology Research
Color and White Spotting Defects

Developmental Biology Research
Neural Crest Defects
Neurodevelopmental Defects

Mouse/Human Gene Homologs
Hirschsprung disease

Neurobiology Research
Neurodevelopmental Defects
Receptor Defects
Vestibular and Hearing Defects

Sensorineural Research
Vestibular and Hearing Defects

Hps5ru2 related

Dermatology Research
Color and White Spotting Defects

Hematological Research
Platelet Defects (platelet storage pool deficiency)

Internal/Organ Research
Kidney Defects (lysosomal enzyme abnormalities)

Mouse/Human Gene Homologs
Hermansky-Pudlak syndrome

Oca2p related

Dermatology Research
Color and White Spotting Defects

Mouse/Human Gene Homologs
albinism, oculocutaneous type II, OCA2

Neurobiology Research
Angelman syndrome

Genes & Alleles

Gene & Allele Information

Allele Symbol Ednrbs
Allele Name piebald
Allele Type Spontaneous
Common Name(s) s;
Strain of Originold mutant of the mouse fancy
Gene Symbol and Name Ednrb, endothelin receptor type B
Chromosome 14
Gene Common Name(s) ABCDS; AU022549; ETB; ETBR; ETRB; Ednra; HSCR; HSCR2; Sox10m1; expressed sequence AU022549; piebald; s;
General Note Also called piebald spotting. This is a very old mutation of the mouse fancy, and was described in the scientific literature as early as 1920 (J23183). Some piebalds in existing stocks may be of independent origin. Homozygotes show irregular white spotting, the amount of which is greatly influenced by minor modifying genes (J:12952). Homozygotes have dark eyes. The white areas of the coat are completely lacking in melanocytes, and there is a reduction in the number of melanocytes in the choroid layer of the eye (J:15014, J:12970). There may also be defects in the structure of the iris, suggesting that pigment cells make some structural or inductive contribution to normal development (J:13123).Homozygotes may develop megacolon which is always associatedwith lack of ganglion cells in the distal portion of the colon. The incidence of megacolon is also affected by minor modifying genes (J:15014). Pigment cells and enteric ganglion cells of the colon are both derived from the neural crest, and Mayer (J:12725) has shown by explantation of embryonic tissues that the defect leading to white spotting is in the neural crest rather than in the skin. The defect probably consists of failure of pigment cells to differentiate in certain tissue environments rather than in failure to migrate (J:5036). The distribution of white areas in the skin and other organs is probably due to normal regional differences in these tissues in capacity to support pigmentation and not to regional heterogeneity among the pigment cells themselves (J:5220, J:5036, J:5060, J:5782).The piebald mutation was shown to be linked closely with Hr (J:299), later mapped to Chr 14 (J:52911). The localization has been refined in studies of induced mutations, using an intersubspecific backcross (J:16291).
Molecular Note This mutation is allelic to a targeted mutation for this gene. Homozygous mice produce approximately 25% of the normal levels of transcript from this allele. RT-PCR analysis demonstrated that no alterations in the coding sequence would result in any alteration of the amino acid sequence. A 5.5 kb retrotransposon-like element is found in intron 1. About 75% of the mRNA produced is an aberrant 6.5 kb form lacking exons 2-6 but containing exon 1. The remaining 25% of the mRNA formed is of normal, 4.4 kb, size. [MGI Ref ID J:110573] [MGI Ref ID J:22206] [MGI Ref ID J:56133]
 
Allele Symbol Hps5ru2
Allele Name ruby-eye 2
Allele Type Spontaneous
Common Name(s) ru2;
Strain of OriginC57BL
Gene Symbol and Name Hps5, Hermansky-Pudlak syndrome 5 homolog (human)
Chromosome 7
Gene Common Name(s) AI646796; AIBP63; AL022647; C85120; KIAA1017; expressed sequence AI646796; expressed sequence AL022647; expressed sequence C85120; haze; hz; maroon; mr; ru-2; ru2; ruby eye 2; ruby-eye 2;
Molecular Note A spontaneous mutant that arose in a substrain of C57BL. An insertion of a 1.0 kb fragment of H2f2a that contains an 8 nt duplication at the 3' end was identified immediately upstream of codon 868 (exon 18). [MGI Ref ID J:81444]
 
Allele Symbol Oca2p
Allele Name pink-eyed dilution
Allele Type Spontaneous
Common Name(s) p;
Strain of OriginAsiatic fancy mice
Gene Symbol and Name Oca2, oculocutaneous albinism II
Chromosome 7
Gene Common Name(s) BEY; BEY1; BEY2; BOCA; D15S12; D7H15S12; D7Icr28RN; D7Nic1; DNA segment, Chr 7, Institute for Cancer Research 28RN; DNA segment, Chr 7, Nicholls 1; DNA segment, Chr 7, human D15S12; EYCL; EYCL2; EYCL3; HCL3; P; PED; SHEP1; p; pink-eyed dilution;
General Note

p is a very old mutation carried in many varieties of fancy mice (J:12958). It has been suggested that the original mutation occurred in Japanese wild mice, Mus musculus molossinus (J:19782).

Homozygotes have pink eyes with pigmentation very much reduced but not completely absent in both the retina and choroid. The black pigment of the hair is very much diluted, but the yellow pigment is only slightly affected. Pigment granules are irregular and shred-like in shape. The small amount of pigment they contain is of wild-type color (J:12970, J:12958). The fine structure of the pigment granules was said by Moyer (J:5001) to be disrupted, but Hearing et al. \R(J:5346) found the structure to be normal, with premature termination of the melanizationprocess.

In tissue culture of the eye, the amount of pigment formed can be increased by increasing the concentration of tyrosine. This suggests that p may block the melanin-synthesizing pathway by interference with tyrosine supply (J:12726). The site of gene action is in the melanocytes and not in either the dermis or the epidermis (J:7988).

A presumed p gene has been cloned (J:2206). It was isolated from mouse melanoma and melanocyte libraries and is missing or altered in six independent p mutant alleles (J:2206). By sequence comparison, the human P locus, deletions of which are associated with hypopigmentation, is orthologous to p (J:2206). P maps to Chr 15q, near the Prader--Willi syndrome locus. On the basis of this location, the p mutation has been proposed to provide a mouse model for Prader--Willi syndrome, for Angelman syndrome, for one form of hypomelanosis of Ito (J:3253), and for type II oculocutaneous albinism (J:3600). A small nuclear ribonucleoprotein particle gene Snrpn maps near p and its human ortholog in the homologous Prader--Willi region of human Chromosome 15 (J:3623). Snrpn appears to be a better candidate for the Prader-Willi syndrome ortholog. P is deleted in human type II oculocutaneous albinism, making p a model for this disease (J:3600).

 
Allele Symbol a
Allele Name nonagouti
Allele Type Spontaneous

Genotyping

Genotyping Information

This strain will not have a genotyping protocol or one is not currently available.

Helpful Links

Optimizing PCR Protocols

References

References

Additional References

Zhang Q; Zhao B; Li W; Oiso N; Novak EK; Rusiniak ME; Gautam R; Chintala S; O'Brien EP; Zhang Y; Roe BA; Elliott RW; Eicher EM; Liang P; Kratz C; Legius E; Spritz RA; O'Sullivan TN; Copeland NG; Jenkins NA; Swank RT. 2003. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet 33(2):145-53. [PubMed: 12548288]  [MGI Ref ID J:81444]

Ednrbs related

BIELSCHOWSKY M; SCHOFIELD GC. 1962. Studies on megacolon in piebald mice. Aust J Exp Biol Med Sci 40:395-403. [PubMed: 13968171]  [MGI Ref ID J:12312]

BILLINGHAM RE; SILVERS WK. 1960. The melanocytes of mammals. Q Rev Biol 35:1-40. [PubMed: 13800713]  [MGI Ref ID J:15014]

Cantrell VA; Owens SE; Chandler RL; Airey DC; Bradley KM; Smith JR; Southard-Smith EM. 2004. Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease. Hum Mol Genet 13(19):2289-301. [PubMed: 15294878]  [MGI Ref ID J:93622]

Carrasquillo MM; McCallion AS; Puffenberger EG; Kashuk CS; Nouri N; Chakravarti A. 2002. Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nat Genet 32(2):237-44. [PubMed: 12355085]  [MGI Ref ID J:112429]

Deol MS. 1971. Spotting genes and internal pigmentation patterns in the mouse. J Embryol Exp Morphol 26(1):123-33. [PubMed: 5565074]  [MGI Ref ID J:5220]

Dunn LC. 1920. Types of white spotting in mice Am Naturalist 54:465-95.  [MGI Ref ID J:23183]

Dunn LC; Charles DR. 1937. Studies on Spotting Patterns I. Analysis of Quantitative Variations in the Pied Spotting of the House Mouse. Genetics 22(1):14-42. [PubMed: 17246828]  [MGI Ref ID J:12952]

Dunn LC; Mohr J. 1952. An Association of Hereditary Eye Defects with White Spotting. Proc Natl Acad Sci U S A 38(10):872-5. [PubMed: 16589191]  [MGI Ref ID J:13123]

Eicher EM; Green MC. 1972. The T6 translocation in the mouse: its use in trisomy mapping, centromere localization, and cytological identification of linkage group 3. Genetics 71(4):621-32. [PubMed: 5055128]  [MGI Ref ID J:5291]

Hauschka TS; Jacobs BB; Holdridge BA. 1968. Recessive yellow and its interaction with belted in the mouse. J Hered 59(6):339-41. [PubMed: 5713933]  [MGI Ref ID J:5110]

Hosoda K; Hammer RE; Richardson JA; Baynash AG; Cheung JC; Giaid A; Yanagisawa M. 1994. Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell 79(7):1267-76. [PubMed: 8001159]  [MGI Ref ID J:22206]

Koide T; Moriwaki K; Uchida K; Mita A; Sagai T; Yonekawa H; Katoh H; Miyashita N; Tsuchiya K; Nielsen TJ; Shiroishi T. 1998. A new inbred strain JF1 established from Japanese fancy mouse carrying the classic piebald allele [published erratum appears in Mamm Genome 1998 Apr;9(4):344] Mamm Genome 9(1):15-9. [PubMed: 9434939]  [MGI Ref ID J:42684]

Kumagai T; Wada A; Tsudzuki M; Nishimura M; Kunieda T. 1998. Nucleotide sequence of endothelin-B receptor gene reveals origin of piebald mutation in laboratory mouse. Exp Anim 47(4):265-9. [PubMed: 10067171]  [MGI Ref ID J:56133]

Kuwaki T; Ling GY; Onodera M; Ishii T; Nakamura A; Ju KH; Cao WH; Kumada M; Kurihara H; Kurihara Y; Yazaki Y; Ohuchi T; Yanagisawa M; Fukuda Y. 1999. Endothelin in the central control of cardiovascular and respiratory functions. Clin Exp Pharmacol Physiol 26(12):989-94. [PubMed: 10626068]  [MGI Ref ID J:60070]

Lamoreaux ML. 1999. Strain-specific white-spotting patterns in laboratory mice Pigment Cell Res 12(6):383-90. [PubMed: 10614578]  [MGI Ref ID J:106083]

Matsushima Y; Shinkai Y; Kobayashi Y; Sakamoto M; Kunieda T; Tachibana M. 2002. A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene. Mamm Genome 13(1):30-5. [PubMed: 11773966]  [MGI Ref ID J:76584]

Mayer TC. 1977. Enhancement of melanocyte development from piebald neural crest by a favorable tissue environment. Dev Biol 56(2):255-62. [PubMed: 849800]  [MGI Ref ID J:5782]

Mayer TC. 1967. Pigment cell migration in piebald mice. Dev Biol 15(6):521-35. [PubMed: 5340422]  [MGI Ref ID J:5036]

Mayer TC. 1967. Temporal skin factors influencing the development of melanoblasts in piebald mice. J Exp Zool 166(3):397-403. [PubMed: 4868265]  [MGI Ref ID J:5060]

Mayer TC. 1965. The development of piebald spotting in mice. Dev Biol 11:319-334. [PubMed: 5320391]  [MGI Ref ID J:12725]

McCallion AS; Stames E; Conlon RA; Chakravarti A. 2003. Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb. Proc Natl Acad Sci U S A 100(4):1826-31. [PubMed: 12574515]  [MGI Ref ID J:81970]

Metallinos DL; Oppenheimer AJ; Rinchik EM; Russell LB; Dietrich W; Tilghman SM. 1994. Fine structure mapping and deletion analysis of the murine piebald locus. Genetics 136(1):217-23. [PubMed: 8138159]  [MGI Ref ID J:16291]

Moore KJ; Swing DA; Copeland NG; Jenkins NA. 1990. Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations [published erratum appears in Genetics 1990 Sep;126(1):285] Genetics 125(2):421-30. [PubMed: 2379821]  [MGI Ref ID J:29467]

Mouse Genome Informatics (MGI). 2005. Information obtained from the Oak Ridge National Laboratory Mutant Mouse Database (ORNL), Oak Ridge, TN (http://bio.lsd.ornl.gov/mouse/) :.  [MGI Ref ID J:100221]

Nadler EP; Boyle P; Murdock AD; Dilorenzo C; Barksdale EM; Ford HR. 2003. Newborn endothelin receptor type B mutant (piebald) mice have a higher resting anal sphincter pressure than newborn C57BL/6 mice. Contemp Top Lab Anim Sci 42(6):36-8. [PubMed: 14615959]  [MGI Ref ID J:86743]

Ohuchi T; Kuwaki T; Ling GY; Dewit D; Ju KH; Onodera M; Cao WH; Yanagisawa M; Kumada M. 1999. Elevation of blood pressure by genetic and pharmacological disruption of the ETB receptor in mice. Am J Physiol 276(4 Pt 2):R1071-7. [PubMed: 10198387]  [MGI Ref ID J:54703]

PIERRO LJ; CHASE HB. 1963. Slate--a new coat color mutant in the mouse. J Hered 54:47-50. [PubMed: 13943454]  [MGI Ref ID J:25388]

Pavan WJ; Mac S; Cheng M; Tilghman SM. 1995. Quantitative trait loci that modify the severity of spotting in piebald mice. Genome Res 5(1):29-41. [PubMed: 8717053]  [MGI Ref ID J:28905]

Ro S; Hwang SJ; Muto M; Jewett WK; Spencer NJ. 2006. Anatomic modifications in the enteric nervous system of piebald mice and physiological consequences to colonic motor activity. Am J Physiol Gastrointest Liver Physiol 290(4):G710-8. [PubMed: 16339294]  [MGI Ref ID J:109114]

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]

Sviderskaya EV; Easty DJ; Bennett DC. 1998. Impaired growth and differentiation of diploid but not immortal melanoblasts from endothelin receptor B mutant (piebald) mice. Dev Dyn 213(4):452-63. [PubMed: 9853966]  [MGI Ref ID J:51286]

Yamada T; Ohtani S; Sakurai T; Tsuji T; Kunieda T; Yanagisawa M. 2006. Reduced expression of the endothelin receptor type B gene in piebald mice caused by insertion of a retroposon-like element in intron 1. J Biol Chem 281(16):10799-807. [PubMed: 16500897]  [MGI Ref ID J:110573]

Hps5ru2 related

Eicher EM. 1970. The Position of ru-2 and qv with Respect to the FLECKED Translocation in the Mouse. Genetics 64(3-4):495-510. [PubMed: 17248484]  [MGI Ref ID J:4428]

Lilly F. 1966. The genetic basis of susceptibility and resistance of mice to the Gross and Friend leukemia viruses. Mouse News Lett 34:14.  [MGI Ref ID J:20282]

Nguyen T; Novak EK; Kermani M; Fluhr J; Peters LL; Swank RT; Wei ML. 2002. Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. J Invest Dermatol 119(5):1156-64. [PubMed: 12445206]  [MGI Ref ID J:80751]

Zhang Q; Zhao B; Li W; Oiso N; Novak EK; Rusiniak ME; Gautam R; Chintala S; O'Brien EP; Zhang Y; Roe BA; Elliott RW; Eicher EM; Liang P; Kratz C; Legius E; Spritz RA; O'Sullivan TN; Copeland NG; Jenkins NA; Swank RT. 2003. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet 33(2):145-53. [PubMed: 12548288]  [MGI Ref ID J:81444]

Oca2p related

Brilliant MH; Ching A; Nakatsu Y; Eicher EM. 1994. The original pink-eyed dilution mutation (p) arose in Asiatic mice: implications for the H4 minor histocompatibility antigen, Myod1 regulation and the origin of inbred strains. Genetics 138(1):203-11. [PubMed: 8001787]  [MGI Ref ID J:19782]

Cook MN; Dunning JP; Wiley RG; Chesler EJ; Johnson DK; Miller DR; Goldowitz D. 2007. Neurobehavioral mutants identified in an ENU-mutagenesis project. Mamm Genome 18(8):559-72. [PubMed: 17629744]  [MGI Ref ID J:125716]

Gardner JM; Nakatsu Y; Gondo Y; Lee S; Lyon MF; King RA; Brilliant MH. 1992. The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science 257(5073):1121-4. [PubMed: 1509264]  [MGI Ref ID J:2206]

Haldane JBS; Sprunt AD; Haldane NM. 1915. Reduplication in mice J Genet 5:133-135.  [MGI Ref ID J:100]

Hearing VJ; Phillips P; Lutzner MA. 1973. The fine structure of melanogenesis in coat color mutants of the mouse. J Ultrastruct Res 43(1):88-106. [PubMed: 4634048]  [MGI Ref ID J:5346]

Lyon MF. 1963. Attempts to test the inactive-X theory of dosage compensation in mammals Genet Res 4:93-103.  [MGI Ref ID J:272]

Markert CL; Silvers WK. 1956. The Effects of Genotype and Cell Environment on Melanoblast Differentiation in the House Mouse. Genetics 41(3):429-50. [PubMed: 17247639]  [MGI Ref ID J:12970]

Moore KJ; Swing DA; Copeland NG; Jenkins NA. 1990. Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations [published erratum appears in Genetics 1990 Sep;126(1):285] Genetics 125(2):421-30. [PubMed: 2379821]  [MGI Ref ID J:29467]

Mouse Genome Informatics (MGI). 2005. Information obtained from the Oak Ridge National Laboratory Mutant Mouse Database (ORNL), Oak Ridge, TN (http://bio.lsd.ornl.gov/mouse/) :.  [MGI Ref ID J:100221]

Moyer FH. 1966. Genetic variations in the fine structure and ontogeny of mouse melanin granules. Am Zool 6(1):43-66. [PubMed: 5902512]  [MGI Ref ID J:5001]

PIERRO LJ; CHASE HB. 1963. Slate--a new coat color mutant in the mouse. J Hered 54:47-50. [PubMed: 13943454]  [MGI Ref ID J:25388]

Pierro LJ; Chase HB. 1965. Temporary hair loss associated with the slate mutation of coat colour in the mouse Nature 205:579-580.  [MGI Ref ID J:83269]

Rinchik EM; Bultman SJ; Horsthemke B; Lee ST; Strunk KM; Spritz RA; Avidano KM; Jong MT; Nicholls RD. 1993. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 361(6407):72-6. [PubMed: 8421497]  [MGI Ref ID J:3600]

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]

Health & husbandry

Health & Colony Maintenance Information

Currently there no information available for this strain. This may be due to the supply level of this strain.

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Pricing for USA, Canada and Mexico shipping destinations View International pricing
Weeks of AgePrice*Gender
Cryorecovery Fee $1900.00
*Price(s) in US dollars ($)

Additional Supply Details

Pricing for International shipping destinations View USA Canada and Mexico pricing
Weeks of AgePrice*Gender
Cryorecovery Fee $2470.00
*Price(s) in US dollars ($)

Additional Supply Details

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.

  • Genomic DNA is available for this strain from the Mouse DNA Resource.

General Terms and Conditions


See Terms of Use


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.
Ordering and Purchasing Information

      Purchasing Information
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Contact Information
Orders & Technical Support
Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
Technical Support Email Form

Terms of Use

Terms of Use


General Terms and Conditions


Contact information

General inquiries

Contracts Administration

phone:207-288-6470
fax:207-288-6655

JAX® Mice & Services Conditions of Use

“Each recipient institution, including its employees and other researchers under its control (RECIPIENT), of mice or services using mice from The Jackson Laboratory (TJL) agrees that such mice, descendants of those mice derived by inbreeding or crossbreeding, including unmodified derivatives of those mice or their descendants (“MICE”) shall not be: (i) used for any purpose other than the internal research of the RECIPIENT, (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 with respect to MICE. Acceptance of MICE from TJL shall be deemed agreement by RECIPIENT to these conditions, and departure from these conditions requires The Jackson Laboratory’s prior written authorization.”

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. THE LABORATORY 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, The Jackson Laboratory will, at its option, provide credit or replacement for the MICE or product received or the services provided.

No Liability

In no event shall The Jackson Laboratory, 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 The Jackson Laboratory, its agents or employees. In purchasing or receiving MICE, products or services from The Jackson Laboratory, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges The Jackson Laboratory from all such causes of action or damages, and further agrees to defend and indemnify The Jackson Laboratory from any costs or damages arising out of any third party claims.

MICE and biological materials 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 The Jackson Laboratory’s MICE, products and services. In addition, special terms and conditions of sale of certain MICE, products and services may be set forth separately in The Jackson Laboratory 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 The Jackson Laboratory, 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 The Jackson Laboratory, 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 services by The Jackson Laboratory.


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