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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
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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 Generation F73p 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 000676 LP/J 000275 V/LeJ View Strains carrying Ednrbs (4 strains)
003295 B6;129-Ednrbtm1Ywa/J 004711 STOCK Ednrbs-52Pub 009063 STOCK Ednrbtm1Nrd/J
Phenotype
Phenotype Information
Hirschsprung Disease, Susceptibility to, 1; HSCR1 - Models with phenotypic similarity to human disease where etiologies are distinct.2
2 Human genes are associated with this disease. Orthologs of those genes do not appear in the mouse genotype(s).
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
- lethality-postnatal
- postnatal lethality (MGI Ref ID J:5008)
- most usually die by 15 days of age
- some live to breed but die between 3 and 15 months of age
- pigmentation phenotype
- abnormal coat/hair pigmentation (MGI Ref ID J:5008)
- absent coat pigmentation (MGI Ref ID J:5008)
- mice are white-coated with small patches of pigmented hair about the eyes,ears and tail
- skin/coat/nails phenotype
- abnormal coat/hair pigmentation (MGI Ref ID J:5008)
- absent coat pigmentation (MGI Ref ID J:5008)
- mice are white-coated with small patches of pigmented hair about the eyes,ears and tail
- digestive/alimentary phenotype
- megacolon (MGI Ref ID J:5008)
- distal four sections of the colon are aganglionic
- grossly evident via markedly distended colon in weaning age or older mice
- nervous system phenotype
- abnormal enteric ganglia morphology (MGI Ref ID J:5008)
- deficiency of ganglion cells of the myenteric plexus of the lower colon
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
Neurodevelopmental Defects
Receptor Defects
Vestibular and Hearing Defects
Sensorineural Research
Vestibular and 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
Neurodevelopmental Defects
Receptor Defects
Vestibular and Hearing Defects
Sensorineural Research
Vestibular and Hearing Defects
Genes & Alleles
Gene & Allele Information
| 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; ETB; ETBR; ETR-b; ETRB; Ednra; HSCR; HSCR2; Sox10m1; 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) | 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; ETB; ETBR; ETR-b; 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 | 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; MGC126092; MGC126093; 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] | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
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]
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]
Keeler CE. 1931. The Independence of Dominant Spotting and Recessive Spotting ('Piebald') in the House Mouse. Proc Natl Acad Sci U S A 17(2):101-2. [PubMed: 16587618] [MGI Ref ID J:153352]
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]
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]
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]
Bultman SJ; Russell LB; Gutierrez-Espeleta GA; Woychik RP. 1991. Molecular characterization of a region of DNA associated with mutations at the agouti locus in the mouse. Proc Natl Acad Sci U S A 88(18):8062-6. [PubMed: 1896452] [MGI Ref ID J:16567]
Bundschuh VG; Madry M. 1988. [atwp mutation in an albino mouse substrain (AB/Hum-1)] Z Versuchstierkd 31(6):249-54. [PubMed: 3227730] [MGI Ref ID J:16568]
Butler AE; Janson J; Soeller WC; Butler PC. 2003. Increased beta-cell apoptosis prevents adaptive increase in beta-cell mass in mouse model of type 2 diabetes: evidence for role of islet amyloid formation rather than direct action of amyloid. Diabetes 52(9):2304-14. [PubMed: 12941770] [MGI Ref ID J:132530]
Cropley JE; Suter CM; Beckman KB; Martin DI. 2006. Germ-line epigenetic modification of the murine A vy allele by nutritional supplementation. Proc Natl Acad Sci U S A 103(46):17308-12. [PubMed: 17101998] [MGI Ref ID J:117156]
De Souza J; Butler AA; Cone RD. 2000. Disproportionate inhibition of feeding in A(y) mice by certain stressors: a cautionary note. Neuroendocrinology 72(2):126-32. [PubMed: 10971147] [MGI Ref ID J:102986]
Dickie MM. 1969. Mutations at the agouti locus in the mouse. J Hered 60(1):20-5. [PubMed: 5798139] [MGI Ref ID J:30922]
Duchesnes CE; Naggert JK; Tatnell MA; Beckman N; Marnane RN; Rodrigues JA; Halim A; Pontre B; Stewart AW; Wolff GL; Elliott R; Mountjoy KG. 2009. New Zealand Ginger Mouse: Novel model that associates the tyrp1b pigmentation gene locus with regulation of lean body mass. Physiol Genomics 37(3):164-74. [PubMed: 19293329] [MGI Ref ID J:146052]
Dunn LC. 1928. A Fifth Allelomorph in the Agouti Series of the House Mouse. Proc Natl Acad Sci U S A 14(10):816-9. [PubMed: 16587414] [MGI Ref ID J:15011]
Enshell-Seijffers D; Lindon C; Morgan BA. 2008. The serine protease Corin is a novel modifier of the Agouti pathway. Development 135(2):217-25. [PubMed: 18057101] [MGI Ref ID J:130426]
Feuerer M; Herrero L; Cipolletta D; Naaz A; Wong J; Nayer A; Lee J; Goldfine AB; Benoist C; Shoelson S; Mathis D. 2009. Lean, but not obese, fat is enriched for a unique population of regulatory T cells that affect metabolic parameters. Nat Med 15(8):930-9. [PubMed: 19633656] [MGI Ref ID J:152186]
Fujimoto W; Shiuchi T; Miki T; Minokoshi Y; Takahashi Y; Takeuchi A; Kimura K; Saito M; Iwanaga T; Seino S. 2007. Dmbx1 is essential in agouti-related protein action. Proc Natl Acad Sci U S A 104(39):15514-9. [PubMed: 17873059] [MGI Ref ID J:125193]
Galbraith DB; Arceci RJ. 1974. Melanocyte populations of yellow and black hair bulbs in the mouse. J Hered 65(6):381-2. [PubMed: 4448905] [MGI Ref ID J:5512]
Galbraith DB; Patrignani AM. 1976. Sulfhydryl compounds in melanocytes of yellow (Ay/a), nonagouti (a/a), and agouti (A/A) mice. Genetics 84(3):587-91. [PubMed: 1001879] [MGI Ref ID J:5737]
Galbraith DB; Wolff GL; Brewer NL. 1980. Hair pigment patterns in different integumental environments of the mouse. Influence of the agouti suppressor (A<s>) mutation on expression of agouti locus alleles. J Hered 71:229-234. [MGI Ref ID J:12033]
Geschwind II; Huseby RA; Nishioka R. 1972. The effect of melanocyte-stimulating hormone on coat color in the mouse. Recent Prog Horm Res 28:91-130. [PubMed: 4631622] [MGI Ref ID J:5324]
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]
Gruneberg H. 1952. . In: The Genetics of the Mouse. Martinus Nijhoff, The Hague. [MGI Ref ID J:30758]
Heaney JD; Michelson MV; Youngren KK; Lam MY; Nadeau JH. 2009. Deletion of eIF2beta suppresses testicular cancer incidence and causes recessive lethality in agouti-yellow mice. Hum Mol Genet 18(8):1395-404. [PubMed: 19168544] [MGI Ref ID J:146879]
Hustad CM; Perry WL; Siracusa LD; Rasberry C; Cobb L; Cattanach BM; Kovatch R; Copeland NG; Jenkins NA. 1995. Molecular genetic characterization of six recessive viable alleles of the mouse agouti locus. Genetics 140(1):255-65. [PubMed: 7635290] [MGI Ref ID J:24934]
Iwatsuka H; Shino A; Suzuoki Z. 1970. General survey of diabetic features of yellow KK mice. Endocrinol Jpn 17(1):23-35. [PubMed: 5468422] [MGI Ref ID J:26460]
Jackson IJ; Budd PS; Keighren M; McKie L. 2007. Humanized MC1R transgenic mice reveal human specific receptor function. Hum Mol Genet 16(19):2341-8. [PubMed: 17652101] [MGI Ref ID J:129904]
Kappenman KE; Dvoracek MA; Harvison GA; Fuller BB; Granholm NH. 1992. Tyrosinase abundance and activity in murine hairbulb melanocytes of agouti mutants (C57BL/6J-a/a, Ay/a, and AwJ/AwJ). Pigment Cell Res Suppl 2:79-83. [PubMed: 1409442] [MGI Ref ID J:1295]
Knisely AS; Gasser DL; Silvers WK. 1975. Expression in organ culture of agouti locus genes of the mouse. Genetics 79(3):471-5. [PubMed: 1126628] [MGI Ref ID J:5533]
Lamoreux ML; Wakamatsu K; Ito S. 2001. Interaction of major coat color gene functions in mice as studied by chemical analysis of eumelanin and pheomelanin. Pigment Cell Res 14(1):23-31. [PubMed: 11277491] [MGI Ref ID J:103803]
Lane PW. 1989. Mottled agouti-J (am-J) Mouse News Lett 84:89. [MGI Ref ID J:16570]
Leamy LJ; Hrubant HE. 1971. Effects of alleles at the agouti locus on odontometric traits in the C57BL-6 strain of house mice. Genetics 67(1):87-96. [PubMed: 5556294] [MGI Ref ID J:16571]
Loosli R. 1963. Tanoid--a new agouti mutant in the mouse. J Hered 54:26-29. [MGI Ref ID J:13082]
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]
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]
Mayer TC; Fishbane JL. 1972. Mesoderm-ectoderm interaction in the production of the agouti pigmentation pattern in mice. Genetics 71(2):297-303. [PubMed: 4558326] [MGI Ref ID J:5288]
Miller MW; Duhl DM; Vrieling H; Cordes SP; Ollmann MM; Winkes BM; Barsh GS. 1993. Cloning of the mouse agouti gene predicts a secreted protein ubiquitously expressed in mice carrying the lethal yellow mutation. Genes Dev 7(3):454-67. [PubMed: 8449404] [MGI Ref ID J:4186]
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]
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]
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]
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]
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]
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]
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]
Tamate HB; Takeuchi T. 1981. Induction of the shift in melanin synthesis in lethal yellow (A<y>/a) mice in vitro. Dev Genet 2:349-356. [MGI Ref ID J:11956]
Tanaka S; Kuwahara S; Nishijima K; Ohno T; Matsuzawa A. 2006. Genetic association of mutation at agouti locus with adrenal x zone morphology in BALB/c mice. Exp Anim 55(4):343-7. [PubMed: 16880681] [MGI Ref ID J:111619]
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]
Tsuruta Y; Yoshimatsu H; Hidaka S; Kondou S; Okamoto K; Sakata T. 2002. Hyperleptinemia in A(y)/a mice upregulates arcuate cocaine- and amphetamine-regulated transcript expression. Am J Physiol Endocrinol Metab 282(4):E967-73. [PubMed: 11882520] [MGI Ref ID J:75872]
Vrieling H; Duhl DM; Millar SE; Miller KA; Barsh GS. 1994. Differences in dorsal and ventral pigmentation result from regional expression of the mouse agouti gene. Proc Natl Acad Sci U S A 91(12):5667-71. [PubMed: 8202545] [MGI Ref ID J:18750]
Wolff GL. 1978. Influence of maternal phenotype on metabolic differentiation of agouti locus mutants in the mouse. Genetics 88(3):529-39. [PubMed: 640377] [MGI Ref ID J:5964]
Woychik RP; Generoso WM; Russell LB; Cain KT; Cacheiro NL; Bultman SJ; Selby PB; Dickinson ME; Hogan BL; Rutledge JC. 1990. Molecular and genetic characterization of a radiation-induced structural rearrangement in mouse chromosome 2 causing mutations at the limb deformity and agouti loci. Proc Natl Acad Sci U S A 87(7):2588-92. [PubMed: 2320577] [MGI Ref ID J:10399]
Wu Q; Howell MP; Cowley MA; Palmiter RD. 2008. Starvation after AgRP neuron ablation is independent of melanocortin signaling. Proc Natl Acad Sci U S A 105(7):2687-92. [PubMed: 18272480] [MGI Ref ID J:132184]
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.
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Pricing, Supply Level & Notes, Controls, General Terms & Conditions
Pricing
| Pricing for USA, Canada and Mexico shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 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.
Additional Supply Details
| Pricing for International shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 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.
Additional Supply Details
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Supply Details
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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| Important Note | |
| This strain is homozygous for nonagouti and segregating for Ednrbs-l and Ednrbs. | |
Control Information
| Control | ||
|---|---|---|
| Ednrbs-l/Ednrbs-l or Ednrbs-l/Ednrbs | ||
| Ednrbs/Ednrbs or Ednrbs-l/Ednrbs | ||
| Considerations for Choosing Controls | ||
| USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| International - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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