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- Description
- Disease & phenotype
- Genes & alleles
- Genotyping
- Health & care
- References
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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 SSL/Le (Changed: 12-NOV-08 ) Type Segregating Inbred; Type Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Type Inbred Strain; Additional information on Inbred Strains. Visit our online Nomenclature tutorial. Species laboratory mouse Appearance
white with a few black spots
Related Genotype: Ednrbs-l/Ednrbs-l
black and white
Related Genotype: Ednrbs-l/Ednrbs
black with a few white spots
Related Genotype: Ednrbs/EdnrbsImportant Note
This strain is homozygous for nonagouti and segregating for Ednrbs-l and Ednrbs.Description
This inbred strain carries both the piebald (Ednrbs) and piebald lethal (Ednrbs-l) alleles. Homozygous piebald mice show irregular white spotting, the amount of which is greatly influenced by minor modifying genes. They also have dark eyes. Homozygous piebald lethal mice are almost completely white with dark eyes and only an occasional small pigmented spot on the head or rump. Piebald-piebald lethal heterozygotes (Ednrbs/Ednrbs-l) mice resemble piebald mice in the degree of spotting. The piebald mutations disrupt the development of melanocytes derived from the neural crest. All piebald lethal homozygotes develop megacolon with a lack of enteric ganglion cells in the posterior end of the colon. On the SSL/Le background, although many Ednrbs-l homozygotes die between 2 and 4 weeks of age, significant numbers survive and may breed. The incidence of megacolon is reduced in piebald and piebald-piebald lethal heterozygotes and is affected by minor modifying genes.Development
The piebald lethal mutation (Ednrbs-l) arose spontaneously at The Jackson Laboratory in 1958 in a C3H/HeJ female showing a blaze and large belly spot. Piebald (Ednrbs) is a very old mutation of the mouse fancy and came to The Jackson Laboratory from a Dr. Holman in 1955 in a multiple recessive stock called HO. The first piebald lethal female #133 was mated to a C57BL/6J male and the offspring were sibling mated. In 1962 a piebald lethal female at F10 was crossed to a WLHR/Le (Stock No. 000147) male at F16 and the new stock was balanced with Ednrbs-l and hairless (Hrhr) in repulsion. This stock was sibling mated, reaching F20 in 1968. In 1968 a piebald (a/a Endrbs/Ednrbs) female from a partially inbred line at F20 was mated to a Ednrbs-l +/+ Hrhr male at F20 and the piebald, piebald lethal (SSL) stock was started. This stock is homozygous for nonagouti (a/a) and segregating for piebald (Ednrbs) and piebald lethal (Ednrbs-l). It reached generation F47 in 1983 and F105 in 2005.
Control Information
| Control | ||
|---|---|---|
| Ednrbs-l/Ednrbs-l or Ednrbs-l/Ednrbs | ||
| Ednrbs/Ednrbs or Ednrbs-l/Ednrbs | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Ednrbs allele
000577 B6 x STOCK a Oca2p Hps5ru2 Ednrbs/J 000674 I/LnJ 003720 JF1/Ms 000676 LP/J 000275 V/LeJ View Strains carrying Ednrbs (5 strains)
011080 B6;129-Ednrbtm1.1Nat/J 003295 B6;129-Ednrbtm1Ywa/J 004711 STOCK Ednrbs-52Pub 009063 STOCK Ednrbtm1Nrd/J
Phenotype
Phenotype Information
Mouse Phenome Database
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Hirschsprung Disease, Susceptibility to, 2; HSCR2
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Abcd Syndrome; ABCDS (EDNRB)
Skin/Hair/Eye Pigmentation, Variation In, 9; SHEP9 (ASIP)
Waardenburg Syndrome, Type 4A; WS4A (EDNRB)
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Ednrbs-l/Ednrbs-l
involves: C3H/HeJ * C57BL/6
- mortality/aging
- postnatal lethality
- pigmentation phenotype
- abnormal coat/hair pigmentation (MGI Ref ID J:5008)
- absent coat pigmentation
- mice are white-coated with small patches of pigmented hair about the eyes,ears and tail (MGI Ref ID J:5008)
- digestive/alimentary phenotype
- megacolon
- nervous system phenotype
- abnormal enteric ganglia morphology
- deficiency of ganglion cells of the myenteric plexus of the lower colon (MGI Ref ID J:5008)
- integument phenotype
- abnormal coat/hair pigmentation (MGI Ref ID J:5008)
- absent coat pigmentation
- mice are white-coated with small patches of pigmented hair about the eyes,ears and tail (MGI Ref ID J:5008)
Ednrbs/Ednrbs
Background Not Specified
- pigmentation phenotype
- abnormal foot pigmentation (MGI Ref ID J:30758)
- abnormal tail pigmentation (MGI Ref ID J:30758)
- variable depigmentation (MGI Ref ID J:30758)
- white spotting
- size of spots is variable depending on modifiers (MGI Ref ID J:12952)
- variable body spotting
- location and size of spots are variable depending on modifiers (MGI Ref ID J:12952)
- background modifiers determine extent (MGI Ref ID J:30758)
- predictable locations for spotting include the feet, tail, head, tip of nose, umbilical area, lumbar region and shoulders (MGI Ref ID J:30758)
- this genotype may result in an entirely or almost entirely unpigmented phenotype or a mouse with few white spots of variable size (MGI Ref ID J:12952)
- limbs/digits/tail phenotype
- abnormal tail pigmentation (MGI Ref ID J:30758)
- digestive/alimentary phenotype
- megacolon
- as many as 10% of any litter of homozygotes may exhibit megacolon (MGI Ref ID J:15014)
- integument phenotype
- abnormal foot pigmentation (MGI Ref ID J:30758)
- abnormal tail pigmentation (MGI Ref ID J:30758)
- variable depigmentation (MGI Ref ID J:30758)
- white spotting
- size of spots is variable depending on modifiers (MGI Ref ID J:12952)
- variable body spotting
- location and size of spots are variable depending on modifiers (MGI Ref ID J:12952)
- background modifiers determine extent (MGI Ref ID J:30758)
- predictable locations for spotting include the feet, tail, head, tip of nose, umbilical area, lumbar region and shoulders (MGI Ref ID J:30758)
- this genotype may result in an entirely or almost entirely unpigmented phenotype or a mouse with few white spots of variable size (MGI Ref ID J:12952)
This mouse can be used to support research in many areas including:Ednrbs-l related
Ednrbs relatedDermatology Research
Color and White Spotting Defects
Developmental Biology Research
Neural Crest Defects
Neurodevelopmental Defects
Mouse/Human Gene Homologs
Hirschsprung disease
Neurobiology Research
Hearing Defects
Neurodevelopmental Defects
Receptor Defects
Sensorineural Research
Hearing Defects
Dermatology Research
Color and White Spotting Defects
Developmental Biology Research
Neural Crest Defects
Neurodevelopmental Defects
Mouse/Human Gene Homologs
Hirschsprung disease
Neurobiology Research
Hearing Defects
Neurodevelopmental Defects
Receptor Defects
Sensorineural Research
Hearing Defects
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Ednrbs-l | ||
|---|---|---|---|
| Allele Name | piebald lethal | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | sl; | ||
| Strain of Origin | (C3H/HeJ x C57BL/6)F2 | ||
| Gene Symbol and Name | Ednrb, endothelin receptor type B | ||
| Chromosome | 14 | ||
| Gene Common Name(s) | ABCDS; AU022549; ET-B; ET-BR; ETB; ETBR; ETR-b; ETRB; Ednra; HSCR; HSCR2; Sox10m1; WS4A; expressed sequence AU022549; piebald; s; | ||
| General Note | This mutation was found in the F2 generation of a cross between C3H/HeJ and C57BL/6J. Homozygotes are almost completely white with dark eyes and with only an occasional small pigmented spot on the head or rump. Ednrbs/Ednrbs-l mice resemble Ednrbs homozygotes in degree of spotting (J:5008). The piebald-lethal mutation acts prior to the onset of expression of the Dct locus (site of the mouse coat color mutation slaty) at 10.5 days post coitum, and disrupts development of melanocytes derived from the neural crest (J:19441). All Ednrbs-l homozygotes develop megacolon with lack of enteric ganglion cells in the posterior end of the colon. They usually die at about 2 weeks of age, but some may live a year or more and may breed (J:5008).Functional studies of the colon and rectum have shown that inhibitory cholinergic innervation is absent in these mice (J:7859, J:6666). Enteric ganglion cells in normal embryos enter the gut by way of the vagal outgrowth at 10 days of gestation and migrate down the gut. In homozygous piebald-lethal embryos migration is slower and does not keep up with elongation of the gut, so that although the neuroblasts migrate 6 to 7 days longer, they never reach the end of the gut (J:5407). In homozygous piebald-lethal mice the neural epithelium of the inner ear is abnormal, probably as a result of defects in the part of the acoustic ganglion derived from the neural crest (J:5048). | ||
| Molecular Note | Southern blotting revealed that all of the coding exons of the gene were deleted. In addition, the transcript was undetectable by northern blotting in homozygous mice. [MGI Ref ID J:22206] | ||
| Allele Symbol | Ednrbs | ||
| Allele Name | piebald | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | pied spotting; s; | ||
| Strain of Origin | old mutant of the mouse fancy | ||
| Gene Symbol and Name | Ednrb, endothelin receptor type B | ||
| Chromosome | 14 | ||
| Gene Common Name(s) | ABCDS; AU022549; ET-B; ET-BR; ETB; ETBR; ETR-b; ETRB; Ednra; HSCR; HSCR2; Sox10m1; WS4A; 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. 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). | ||
| 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 | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
| Strain of Origin | old 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; | ||
| 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] | ||
References
References provided by MGI
Selected Reference(s)
Lane PW. 1966. Association of megacolon with two recessive spotting genes in the mouse. J Hered 57(1):29-31. [PubMed: 5917257] [MGI Ref ID J:5008]
Additional References
Baynash AG; Hosoda K; Giaid A; Richardson JA; Emoto N; Hammer RE; Yanagisawa M. 1994. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 79(7):1277-85. [PubMed: 8001160] [MGI Ref ID J:22207]
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]
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]
Ednrbs-l relatedEdnrbs relatedBrito FC; Kos L. 2008. Timeline and distribution of melanocyte precursors in the mouse heart. Pigment Cell Melanoma Res 21(4):464-70. [PubMed: 18444965] [MGI Ref ID J:138178]
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]
Deol MS. 1967. The neural crest and the acoustic ganglion. J Embryol Exp Morphol 17(3):533-41. [PubMed: 6049665] [MGI Ref ID J:5048]
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]
Kapur RP; Sweetser DA; Doggett B; Siebert JR; Palmiter RD. 1995. Intercellular signals downstream of endothelin receptor-B mediate colonization of the large intestine by enteric neuroblasts. Development 121(11):3787-95. [PubMed: 8582288] [MGI Ref ID J:29884]
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]
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]
Pavan WJ; Tilghman SM. 1994. Piebald lethal (sl) acts early to disrupt the development of neural crest-derived melanocytes. Proc Natl Acad Sci U S A 91(15):7159-63. [PubMed: 8041763] [MGI Ref ID J:19441]
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]
Spencer NJ; Bayguinov P; Hennig GW; Park KJ; Lee HT; Sanders KM; Smith TK. 2007. Activation of neural circuitry and Ca2+ waves in longitudinal and circular muscle during CMMCs and the consequences of rectal aganglionosis in mice. Am J Physiol Gastrointest Liver Physiol 292(2):G546-55. [PubMed: 17023548] [MGI Ref ID J:124816]
Spencer NJ; Kerrin A; Zagorodnyuk VP; Hennig GW; Muto M; Brookes SJ; McDonnell O. 2008. Identification of functional intramuscular rectal mechanoreceptors in aganglionic rectal smooth muscle from piebald lethal mice. Am J Physiol Gastrointest Liver Physiol 294(4):G855-67. [PubMed: 18218672] [MGI Ref ID J:134090]
Ueki S; Okamoto E; Kuwata K; Toyosaka A; Nagai K. 1985. Qualitative and quantitative analysis of muscarinic acetylcholine receptors in the piebald lethal mouse model of Hirschsprung's disease. Gastroenterology 88(6):1834-41. [PubMed: 3996840] [MGI Ref ID J:7859]
Vaillant C; Bu'lock A; Dimaline R; Dockray GJ. 1982. Distribution and development of peptidergic nerves and gut endocrine cells in mice with congenital aganglionic colon, and their normal littermates. Gastroenterology 82(2):291-300. [PubMed: 6172311] [MGI Ref ID J:6666]
Van Raamsdonk CD; Fitch KR; Fuchs H; de Angelis MH; Barsh GS. 2004. Effects of G-protein mutations on skin color. Nat Genet 36(9):961-8. [PubMed: 15322542] [MGI Ref ID J:92947]
Webster W. 1973. Embryogenesis of the enteric ganglia in normal mice and in mice that develop congenital aganglionic megacolon. J Embryol Exp Morphol 30(3):573-85. [PubMed: 4772386] [MGI Ref ID J:5407]
a relatedBIELSCHOWSKY 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]
Cattanach BM. 1961. A chemically-induced variegated-type position effect in the mouse. Z Vererbungsl 92:165-82. [PubMed: 13877379] [MGI Ref ID J:160128]
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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; Macdowell EC; Lebedeff GA. 1937. Studies on Spotting Patterns III. Interaction between Genes Affecting White Spotting and Those Affecting Color in the House Mouse. Genetics 22(2):307-18. [PubMed: 17246842] [MGI Ref ID J:12954]
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]
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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]
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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]
Lamoreux ML. 1999. Strain-specific white-spotting patterns in laboratory mice Pigment Cell Res 12(6):383-90. [PubMed: 10614578] [MGI Ref ID J:106083]
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]
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]
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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]
Oak Ridge National Laboratory. 2005. Information obtained from the Oak Ridge National Laboratory Mutant Mouse Database (ORNL), Oak Ridge, TN Unpublished :. [MGI Ref ID J:100221]
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]
Baba K; Sakakibara S; Setsu T; Terashima T. 2007. The superficial layers of the superior colliculus are cytoarchitectually and myeloarchitectually disorganized in the reelin-deficient mouse, reeler. Brain Res 1140:205-15. [PubMed: 17173877] [MGI Ref ID J:120267]
Batchelor AL; Phillips RJ; Searle AG. 1966. A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res 3(3):218-29. [PubMed: 5962396] [MGI Ref ID J:5021]
Bjorbaek C; Elmquist JK; Frantz JD; Shoelson SE; Flier JS. 1998. Identification of SOCS-3 as a potential mediator of central leptin resistance. Mol Cell 1(4):619-25. [PubMed: 9660946] [MGI Ref ID J:119803]
Bultman SJ; Klebig ML; Michaud EJ; Sweet HO; Davisson MT; Woychik RP. 1994. Molecular analysis of reverse mutations from nonagouti (a) to black-and-tan (a(t)) and white-bellied agouti (Aw) reveals alternative forms of agouti transcripts. Genes Dev 8(4):481-90. [PubMed: 8125260] [MGI Ref ID J:16984]
Bultman SJ; Michaud EJ; Woychik RP. 1992. Molecular characterization of the mouse agouti locus. Cell 71(7):1195-204. [PubMed: 1473152] [MGI Ref ID J:3523]
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Granholm DE; Reese RN; Granholm NH. 1996. Agouti alleles alter cysteine and glutathione concentrations in hair follicles and serum of mice (A y/a, A wJ/A wJ, and a/a). J Invest Dermatol 106(3):559-63. [PubMed: 8648194] [MGI Ref ID J:32132]
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Kaelin CB; Xu X; Hong LZ; David VA; McGowan KA; Schmidt-Kuntzel A; Roelke ME; Pino J; Pontius J; Cooper GM; Manuel H; Swanson WF; Marker L; Harper CK; van Dyk A; Yue B; Mullikin JC; Warren WC; Eizirik E; Kos L; O'Brien SJ; Barsh GS; Menotti-Raymond M. 2012. Specifying and sustaining pigmentation patterns in domestic and wild cats. Science 337(6101):1536-41. [PubMed: 22997338] [MGI Ref ID J:188277]
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Martin NM; Houston PA; Patterson M; Sajedi A; Carmignac DF; Ghatei MA; Bloom SR; Small CJ. 2006. Abnormalities of the somatotrophic axis in the obese agouti mouse. Int J Obes (Lond) 30(3):430-8. [PubMed: 16172617] [MGI Ref ID J:151302]
Martinez HG; Quinones MP; Jimenez F; Estrada CA; Clark K; Muscogiuri G; Sorice G; Musi N; Reddick RL; Ahuja SS. 2011. Critical role of chemokine (C-C motif) receptor 2 (CCR2) in the KKAy + Apoe -/- mouse model of the metabolic syndrome. Diabetologia 54(10):2660-8. [PubMed: 21779871] [MGI Ref ID J:177084]
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Miyazaki M; Sampath H; Liu X; Flowers MT; Chu K; Dobrzyn A; Ntambi JM. 2009. Stearoyl-CoA desaturase-1 deficiency attenuates obesity and insulin resistance in leptin-resistant obese mice. Biochem Biophys Res Commun 380(4):818-22. [PubMed: 19338759] [MGI Ref ID J:147343]
Monroe DG; Wipf LP; Diggins MR; Matthees DP; Granholm NH. 1998. Agouti-related maturation and tissue distribution of alpha-Melanocyte Stimulating Hormone in wild-type (AwJ/AwJ) and mutant (Ay/a,a/a) mice. Pigment Cell Res 11(5):310-3. [PubMed: 9877102] [MGI Ref ID J:52183]
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]
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Novak EK; Wieland F; Jahreis GP; Swank RT. 1980. Altered secretion of kidney lysosomal enzymes in the mouse pigment mutants ruby-eye, ruby-eye-2-J, and maroon. Biochem Genet 18(5-6):549-61. [PubMed: 6776948] [MGI Ref ID J:6422]
Nuotio-Antar AM; Hachey DL; Hasty AH. 2007. Carbenoxolone treatment attenuates symptoms of metabolic syndrome and atherogenesis in obese, hyperlipidemic mice. Am J Physiol Endocrinol Metab 293(6):E1517-28. [PubMed: 17878220] [MGI Ref ID J:145108]
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]
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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]
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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]
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Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.
Pricing and Purchasing
Pricing, Supply Level & Notes, Controls
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2250.00 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 11 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 |
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $2925.00 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 11 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).
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Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
General Supply Notes
- View the complete collection of spontaneous mutants in the Mouse Mutant Resource.
- Genomic DNA is available for this strain from the Mouse DNA Resource.
Control Information
| Control | ||
|---|---|---|
| Ednrbs-l/Ednrbs-l or Ednrbs-l/Ednrbs | ||
| Ednrbs/Ednrbs or Ednrbs-l/Ednrbs | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
Important Note
This strain is homozygous for nonagouti and segregating for Ednrbs-l and Ednrbs.
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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.Ordering Information
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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
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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.
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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.