Description

Strain Information

Former Names JF1/Msf    (Changed: 26-OCT-05 ) Japanese Fancy Mouse 1    (Changed: 15-DEC-04 ) Type Inbred Strain; Additional information on Inbred Strains. Type Wild-Derived; Additional information on Wild-Derived Mice. Visit our online Nomenclature tutorial. Mating System Sibling x Sibling         (Female x Male)   01-MAR-06 Species M. m. molossinus Generation F26+6+30 (06-MAR-13) Generation Definitions Geographic Origin Japan

Appearance
black spotted white coat, black eyes
Related Genotype: a/a Ednrb^s/Ednrb^s

Description
JF1/Ms (Japanese Fancy Mouse) was derived from a mouse stock purchased from a market in Denmark, and has been identifed as belonging to species M. m. molossinus. JF1 carries the piebald allele, a retroposon-like insertion in intron 1 of the endothelin receptor type B (Ednrb) gene, which results in a white coat with black spots and black eyes. The white areas of the coat are lacking in neural crest-derived melanocytes. In addition to alterations in coat color, JF1 mice exhibit a decreased amount of enteric innervation and neuronal density predominantly in the distal colon, but do not exhibit any of the megacolon symptoms often associated with mutations in Ednrb. Wild-derived mice are genetically distinct from common laboratory mice for a number of complex phenotypic characteristics and are valuable tools for genetic mapping, evolution and systematics research.

Development
Mice of a stock identified as a Japanese Fancy Mouse were purchased from a market in Denmark in 1987 and maintained by sibling inbreeding at the National Institute of Genetics, Mishima, Japan. In 1993, at generation F20, the established inbred strain was named JF1 (Japanese Fancy Mouse 1). Genetic analysis employing DNA microsatellite markers, biochemical markers used for typing mouse subspecies, and restriction fragment length polymorphism (RFLP) analysis of mitochondrial DNA led to the conclusion that JF1 is of the species Mus musculus molossinus (Koide et al. 1998). Mice of this strain were imported by The Jackson Laboratory in May 2000 from Dr Toshihiko Shiroishi.

Related Strains

Strains carrying   Ednrb^s allele

000577	B6 x STOCK a Oca2p Hps5ru2 Ednrbs/J
000674	I/LnJ
000676	LP/J
000308	SSL/LeJ
000275	V/LeJ

View Strains carrying   Ednrb^s     (5 strains)

Strains carrying other alleles of Ednrb

011080	B6;129-Ednrbtm1.1Nat/J
003295	B6;129-Ednrbtm1Ywa/J
000308	SSL/LeJ
004711	STOCK Ednrbs-52Pub
009063	STOCK Ednrbtm1Nrd/J

View Strains carrying other alleles of Ednrb     (5 strains)

Additional Web Information

JAX^® NOTES, Winter 1995; 460. Wild-Derived Mice Strains - Tips on Their Care and Handling.

Phenotype

Phenotype Information

View Phenotypic Data

Phenotypic Data

Mouse Phenome Database

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Abcd Syndrome; ABCDS   (EDNRB) Hirschsprung Disease, Susceptibility to, 2; HSCR2   (EDNRB) Waardenburg Syndrome, Type 4A; WS4A   (EDNRB)

View Research Applications

Research Applications

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

Internal/Organ Research
Gastrointestinal Defects

Research Tools
Genetics Research
      Evolution and Systematics Research
      Gene Mapping
      Gene Mapping: Polymorphisms

Ednrb^s related

Dermatology Research
Color and White Spotting Defects

Developmental Biology Research
Neural Crest Defects
Neurodevelopmental Defects

Neurobiology Research
Hearing Defects
Neurodevelopmental Defects
Receptor Defects

Sensorineural Research
Hearing Defects

Genes & Alleles

Gene & Allele Information provided by MGI

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]

Genotyping

Genotyping Information

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Dang R; Sasaki N; Torigoe D; Agui T. 2012. Anatomic modifications in the enteric nervous system of JF1 mice with the classic piebald mutation. J Vet Med Sci 74(3):391-4. [PubMed: 22067082]  [MGI Ref ID J:193523]

Additional References

Ideraabdullah FY; de la Casa-Esperon E; Bell TA; Detwiler DA; Magnuson T; Sapienza C; de Villena FP. 2004. Genetic and haplotype diversity among wild-derived mouse inbred strains. Genome Res 14(10A):1880-7. [PubMed: 15466288]  [MGI Ref ID J:193384]

Kikkawa Y; Miura I; Takahama S; Wakana S; Yamazaki Y; Moriwaki K; Shiroishi T; Yonekawa H. 2001. Microsatellite database for MSM/Ms and JF1/Ms, molossinus-derived inbred strains. Mamm Genome 12(9):750-2. [PubMed: 11641725]  [MGI Ref ID J:71416]

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]

Petkov PM; Cassell MA; Sargent EE; Donnelly CJ; Robinson P; Crew V; Asquith S; Haar RV; Wiles MV. 2004. Development of a SNP genotyping panel for genetic monitoring of the laboratory mouse. Genomics 83(5):902-11. [PubMed: 15081119]  [MGI Ref ID J:89298]

Ednrb^s 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]

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]

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]

Gruneberg H. 1952. . In: The Genetics of the Mouse. Martinus Nijhoff, The Hague.  [MGI Ref ID J:30758]

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]

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]

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]

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]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Room Number           FGB27

Colony Maintenance

Mating System	Sibling x Sibling         (Female x Male)   01-MAR-06
Diet Information	LabDiet® 5K52/5K67

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls

General Supply Notes

• View the complete collection of spontaneous mutants in the Mouse Mutant Resource.
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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.

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