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

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 CPF42p Generation Definitions

Appearance
grey with white spots, thin wavy coat, circling
Related Genotype: a/a fz Mlph^ln/fz Mlph^ln Ednrb^s/Ednrb^s Cdh23^v/Cdh23^v

grey with white spots, thin wavy coat
Related Genotype: a/a fz Mlph^ln/fz Mlph^ln Ednrb^s/Ednrb^s Cdh23^v/+

Important Note
This strain is homozygous for fz, Mlph^ln, and Ednrb^s, and is segregating for Cdh23^v.

Description
This strain was originally used as a linkage stock for gene mapping. It is homozygous for several visible recessive mutations all located on different chromosomes including nonagouti (a), fuzzy (fz), leaden (Mlph^ln), and piebald (Ednrb^s) and is segregating for the neurological mutation, waltzer (Cdh23^v). Homozygous waltzer mice show the circling, head-tossing, deafness, and hyperactivity typical of the circling mutants. Abnormalities of the inner ear include degeneration of the organ of Corti, spiral ganglion, stria vascularis, and saccular macula. Homozygous piebald mice show irregular white spotting, the amount of which is greatly influenced by minor modifying genes. Homozygous piebald mice 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.

Development
The waltzing mutation came from the Japanese mouse fanciers and was received by George Snell at The Jackson Laboratory from Ludwin in 1947 when the stock was homozygous for nonagouti, leaden, waved 1, and piebald. This stock was crossed once to C57BL/10 and non-sibling mated for approximately 22 generations after which it was crossed to a C57BL/10 stock bearing fuzzy and jittery. The fuzzy and waved 1 mutations were selectively bred out of the stock. Sibling inbreeding of this stock began in approximately 1960. In 1983 this stock was at generation F47 and waltzer heterozygous females were bred with homozygous males to generate embryos for cryopreservation.

Control Information

	Control
	None Available
Considerations for Choosing Controls

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

View Strains carrying   Ednrb^s     (4 strains)

Strains carrying   Mlph^ln allele

000112	B6.Cg-Sgk3fz H54 Mlphln/+ H54 +/J
000668	C57L/J
000643	DW/J Mlphln Pou1f1dw/J
002902	STOCK Pax3Sp Mlphln/J

View Strains carrying   Mlph^ln     (4 strains)

Strains carrying   Sgk3^fz allele

000112

B6.Cg-Sgk3fz H54 Mlphln/+ H54 +/J

View Strains carrying   Sgk3^fz     (1 strain)

Strains carrying other alleles of Cdh23

001137	129P1/ReJ
000690	129P3/J
000691	129X1/SvJ
000646	A/J
000647	A/WySnJ
003070	ALR/LtJ
003072	ALS/LtJ
002552	B6(V)-Cdh23v-2J/J
002756	B6.CAST-Cdh23Ahl+/Kjn
010615	B6.CBACa-Cdh23CBA/CaJ/Kjn
004502	B6;AKR-Lxl2/GrsrJ
002432	B6J x B6.C-H2-Kbm1/ByJ-Cdh23v-J/J
001026	BALB/cByJ
000653	BUB/BnJ
005494	C3.129S1(B6)-Grm1rcw/J
000664	C57BL/6J
004764	C57BL/6J-Cdh23v-8J/J
004819	C57BL/6J-Cdh23v-9J/J
003129	C57BL/6J-Epha4rb-2J/GrsrJ
004820	C57BL/6J-Kcne12J/J
004703	C57BL/6J-Kcnq2Nmf134/J
004811	C57BL/6J-nmf110/J
004812	C57BL/6J-nmf111/J
004747	C57BL/6J-nmf118/J
004656	C57BL/6J-nmf88/J
004391	C57BL/6J-Chr 13A/J/NaJ
004385	C57BL/6J-Chr 7A/J/NaJ
000662	C57BLKS/J
000667	C57BR/cdJ
000668	C57L/J
000669	C58/J
010614	CBACa.B6-Cdh23ahl/Kjn
005016	CByJ;B6-Cdh23v-10J/J
000657	CE/J
000670	DBA/1J
001140	DBA/1LacJ
000671	DBA/2J
007048	DBA/2J-Gpnmb+/SjJ
002106	KK/HlJ
000675	LG/J
000676	LP/J
000677	MA/MyJ
001976	NOD/ShiLtJ
002050	NOR/LtJ
000679	P/J
002747	SENCARB/PtJ
002335	SKH2/J
003392	STOCK Crb1rd8/J

View Strains carrying other alleles of Cdh23     (48 strains)

Strains carrying other alleles of Ednrb

000577	B6 x STOCK a Oca2p Hps5ru2 Ednrbs/J
011080	B6;129-Ednrbtm1.1Nat/J
003295	B6;129-Ednrbtm1Ywa/J
000674	I/LnJ
000676	LP/J
000308	SSL/LeJ
004711	STOCK Ednrbs-52Pub
009063	STOCK Ednrbtm1Nrd/J

View Strains carrying other alleles of Ednrb     (8 strains)

Strains carrying other alleles of Mlph

000112	B6.Cg-Sgk3fz H54 Mlphln/+ H54 +/J
000668	C57L/J
000681	DW.C3-Mlph+ Pou1f1+/J
000643	DW/J Mlphln Pou1f1dw/J
001640	STOCK Mlphln-l1Rk3/J
002902	STOCK Pax3Sp Mlphln/J

View Strains carrying other alleles of Mlph     (6 strains)

Strains carrying other alleles of Sgk3

000112	B6.Cg-Sgk3fz H54 Mlphln/+ H54 +/J
006135	STOCK Sgk3fz-ica/McirJ

View Strains carrying other alleles of Sgk3     (2 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI

Usher Syndrome, Type ID; USH1D - Models with phenotypic similarity to human disease where etiologies involve orthologs.1

1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).

View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI

      assigned by genotype

Cdh23^v/Cdh23^v

        V/LeJ

• homeostasis/metabolism phenotype
• *normal* homeostasis/metabolism phenotype
  • no aberrant bleeding time after tail vein nick   (MGI Ref ID J:29151)

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.

Cdh23^v/Cdh23⁺

        mixed

• hearing/vestibular/ear phenotype
• increased susceptibility to age-related hearing loss
  • percentage of animal showing no Preyer reflex in response to the sound stimulus increase from 0% at 1 to 3 months to approximately 35% at 7 to 9 month   (MGI Ref ID J:108877)
• behavior/neurological phenotype
• absent pinna reflex
  • percentage of animal showing no Preyer reflex in response to the sound stimulus increase from 0% at 1 to 3 months to approximately 35% at 7 to 9 month   (MGI Ref ID J:108877)

Cdh23^v/Cdh23^v

        involves: CBA/Ca

• vision/eye phenotype
• *normal* vision/eye phenotype
  • no histological abnormalities are seen and no evidence of photoreceptor cell loss is detected   (MGI Ref ID J:109546)
• • abnormal eye electrophysiology
    • at 100-130 days of age, electroretinography analysis showed that a-waves have reduced amplitudes and faster implicit times; the b-wave is attenuated, but the implicit time is not significantly faster   (MGI Ref ID J:109546)
• hearing/vestibular/ear phenotype
• abnormal inner hair cell stereociliary bundle morphology
  • disorganized in all homozygotes at all stages analyzed (E18.5, P4, and P20)   (MGI Ref ID J:108877)
• abnormal outer hair cell stereociliary bundle morphology
  • homozygotes projected fewer recognizable stereocilia at E18.5   (MGI Ref ID J:108877)
  • arranged in irregular clumps rather than in normal "V"-shape at P4   (MGI Ref ID J:108877)
  • stereocilia remain disorganized at P20   (MGI Ref ID J:108877)
• nervous system phenotype
• abnormal inner hair cell stereociliary bundle morphology
  • disorganized in all homozygotes at all stages analyzed (E18.5, P4, and P20)   (MGI Ref ID J:108877)
• abnormal outer hair cell stereociliary bundle morphology
  • homozygotes projected fewer recognizable stereocilia at E18.5   (MGI Ref ID J:108877)
  • arranged in irregular clumps rather than in normal "V"-shape at P4   (MGI Ref ID J:108877)
  • stereocilia remain disorganized at P20   (MGI Ref ID J:108877)

Cdh23^v/Cdh23^v

        mixed

• behavior/neurological phenotype
• impaired swimming
  • adults are unable to swim   (MGI Ref ID J:13130)
• hearing/vestibular/ear phenotype
• cochlear hair cell degeneration
  • at 2 weeks of age   (MGI Ref ID J:13130)
• vestibular saccular macula degeneration
  • at 13 days   (MGI Ref ID J:13130)
• nervous system phenotype
• cochlear ganglion degeneration
  • at 4 weeks   (MGI Ref ID J:13130)
• cochlear hair cell degeneration
  • at 2 weeks of age   (MGI Ref ID J:13130)

Cdh23^v/Cdh23^v

        involves: fancier's stocks

• behavior/neurological phenotype
• abnormal locomotor behavior
  • no wire mesh climbing is seen in males   (MGI Ref ID J:133042)
• • abnormal gait
    • waddling gait   (MGI Ref ID J:133042)
  • decreased vertical activity
    • no rearing behavior is seen in males   (MGI Ref ID J:133042)
• abnormal response to novelty
  • decrease in the frequency of digging, wall gnawing, forepaw vibrations, wall leans, hair fluffing, and sniffing at wire mesh in males   (MGI Ref ID J:133042)
  • increase in the frequency of sniffing at the peat dust in males   (MGI Ref ID J:133042)
  • no food carrying is seen in males   (MGI Ref ID J:133042)
• abnormal stationary movement
  • decrease in the frequency of single forepaw lifts in males   (MGI Ref ID J:133042)
• • head shaking   (MGI Ref ID J:133042)
• circling   (MGI Ref ID J:133042)
• decreased grooming behavior
  • reduced frequency of grooming in males   (MGI Ref ID J:133042)
• tremors   (MGI Ref ID J:133042)
• digestive/alimentary phenotype
• abnormal defecation
  • reduced frequency   (MGI Ref ID J:133042)
• hearing/vestibular/ear phenotype
• deafness   (MGI Ref ID J:133042)

View Research Applications

Research Applications

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

Cdh23^v related

Developmental Biology Research
Defects in Cell Adhesion Molecules

Mouse/Human Gene Homologs
Usher syndrome, type ID
      USH1D
deafness, autosomal recessive 12 (DFNB12)

Neurobiology Research
Hearing Defects
      deafness, nonsyndromic autosomal recessive 12 (DFNB12)
Vestibular Defects

Sensorineural Research
Hearing Defects
      deafness, nonsyndromic autosomal recessive 12 (DFNB12)
Vestibular Defects

Ednrb^s related

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

Mlph^ln related

Dermatology Research
Color and White Spotting Defects

Sgk3^fz related

Skin and Hair Texture Defects

Genes & Alleles

Gene & Allele Information provided by MGI

Allele Symbol		Cdh23v
Allele Name		waltzer
Allele Type		Spontaneous
Common Name(s)		v;
Strain of Origin		old mutant of the mouse fancy
Gene Symbol and Name		Cdh23, cadherin 23 (otocadherin)
Chromosome		10
Gene Common Name(s)		4930542A03Rik; CDHR23; RIKEN cDNA 4930542A03 gene; USH1D; W; age related hearing loss 1; ahl; bob; bobby; bus; bustling; mdfw; modifier of deaf waddler; neuroscience mutagenesis facility, 112; neuroscience mutagenesis facility, 181; neuroscience mutagenesis facility, 252; nmf112; nmf181; nmf252; sals; salsa; v; waltzer;
General Note		Viability and breeding ability are somewhat less than normal. Homozygotes show the typical circling, head-tossing, deafness, and hyperactivity of the circling mutants. Most of them are deaf from the beginning. Abnormalities of the inner ear include degeneration of the organ of Corti, spiral ganglion, stria vascularis, and saccular macula. Double heterozygotes with shaker-1 (Cdh23v/+ Myo7ash1/+) are deaf beginning at 3 to 6 months. They have changes similar to those of the homozygotes in the organ of Corti, stria vascularis, and spiral ganglion, but less severe and with much later onset (J:13130)(J:15164).
Molecular Note		A single G nucleotide insertion at position 889 is predicted to cause a frameshift and premature termination of the encoded protein. [MGI Ref ID J:69985] [MGI Ref ID J:73941]
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		Mlphln
Allele Name		leaden
Allele Type		Spontaneous
Common Name(s)		ln;
Strain of Origin		C57BR
Gene Symbol and Name		Mlph, melanophilin
Chromosome		1
Gene Common Name(s)		2210418F23Rik; 5031433I09Rik; AW228792; D1Wsu84e; DNA segment, Chr 1, Wayne State University 84, expressed; SLAC2-A; Slac-2a; expressed sequence AW228792; l(1)-3Rk; l1Rk3; leaden; lethal, Chr 1, Roderick 3; ln;
General Note		In its effect on coat color the leaden mouse is indistinguishable from the dilute mouse. Like dilute, this allele causes clumping of melanin granules into larger masses, but no change in color of the pigment. The clumping is due to the shape of the melanocytes, which have fewer and thinner dendritic processes than wild-type melanocytes (J:12970). These melanocytes are more easily dislodged from fixed sites in the hair bulb and incorporated into the developing hair, resulting in large clumps of pigmentin the hair shaft (J:5095). By use of chimeras and dermal-epidermal recombination grafts, the site of action was shown to be in the melanocytes (J:8167).
Molecular Note		This allele has a C to T transition at mRNA nucleotide position 266. This introduces a stop codon in the sequence of the normally spliced transcript and it also creates a new splice donor site in exon 2. Use of this alternative splice site yields a transcript with an in-frame 21 base pair deletion that deletes 7 amino acids from the translated protein. Northern blots failed to detect this size difference and did not find any change from normal in transcript expression level. [MGI Ref ID J:71302]
Allele Symbol		Sgk3fz
Allele Name		fuzzy
Allele Type		Spontaneous
Strain of Origin		CFW stock
Gene Symbol and Name		Sgk3, serum/glucocorticoid regulated kinase 3
Chromosome		1
Gene Common Name(s)		2510015P22Rik; A330005P07Rik; CISK; RIKEN cDNA 2510015P22 gene; RIKEN cDNA A330005P07 gene; SGK2; SGKL; cytokine-independent survival kinase; frowzy; fuzzy; fy; fz;
Molecular Note		This mutation comprises insertion of a single adenine following nucleotide 579 of the cDNA sequence, in a region encoded by exon 10 of the gene, that causes a shift in the amino acid reading frame and premature termination of protein translation following leucine 192 (Leu192Ter), which resides in the serine/threonine kinase domain. [MGI Ref ID J:125551]

Genotyping

Genotyping Information

Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

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]

Bolz H; von Brederlow B; Ramirez A; Bryda EC; Kutsche K; Nothwang HG; Seeliger M; Cabrera Md; Vila MC; Molina OP; Kubisch C; Gal A. 2001. Mutation of CDH23, encoding a new member of the cadherin gene family, causes usher syndrome type 1D Nat Genet 27(1):108-12. [PubMed: 11138009]  [MGI Ref ID J:66740]

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]

Cdh23^v related

DEOL MS. 1956. The anatomy and development of the mutants pirouette, shaker-1 and waltzer in the mouse. Proc R Soc Lond B Biol Sci 145(919):206-13. [PubMed: 13336002]  [MGI Ref ID J:13130]

Di Palma F; Pellegrino R; Noben-Trauth K. 2001. Genomic structure, alternative splice forms and normal and mutant alleles of cadherin 23 (Cdh23). Gene 281(1-2):31-41. [PubMed: 11750125]  [MGI Ref ID J:73941]

El-Amraoui A; Petit C. 2005. Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells. J Cell Sci 118(Pt 20):4593-603. [PubMed: 16219682]  [MGI Ref ID J:102194]

Holme RH; Steel KP. 2004. Progressive hearing loss and increased susceptibility to noise-induced hearing loss in mice carrying a Cdh23 but not a Myo7a mutation. J Assoc Res Otolaryngol 5(1):66-79. [PubMed: 14648237]  [MGI Ref ID J:134369]

Holme RH; Steel KP. 2002. Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice. Hear Res 169(1-2):13-23. [PubMed: 12121736]  [MGI Ref ID J:108877]

Johnson KR; Zheng QY; Noben-Trauth K. 2006. Strain background effects and genetic modifiers of hearing in mice. Brain Res 1091(1):79-88. [PubMed: 16579977]  [MGI Ref ID J:110459]

KOCHER W. 1960. [Studies on the genetics and pathology of the development of 8 labyrinth mutants (deaf-waltzer-shaker mutants) in the mouse (Mus musculus).] Z Vererbungsl 91:114-40. [PubMed: 13853422]  [MGI Ref ID J:15164]

Keeler CE. 1931. . In: The Laboratory Mouse. Its Origin, Heredity, and Culture. Harvard Univ. Press, Cambridge, MA.  [MGI Ref ID J:30784]

Libby RT; Kitamoto J; Holme RH; Williams DS; Steel KP. 2003. Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration. Exp Eye Res 77(6):731-9. [PubMed: 14609561]  [MGI Ref ID J:109546]

Manji SS; Miller KA; Williams LH; Andreasen L; Siboe M; Rose E; Bahlo M; Kuiper M; Dahl HH. 2011. An ENU-Induced Mutation of Cdh23 Causes Congenital Hearing Loss, but No Vestibular Dysfunction, in Mice. Am J Pathol 179(2):903-14. [PubMed: 21689626]  [MGI Ref ID J:174130]

Reiners J; Nagel-Wolfrum K; Jurgens K; Marker T; Wolfrum U. 2006. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res 83(1):97-119. [PubMed: 16545802]  [MGI Ref ID J:116295]

Rzadzinska AK; Steel KP. 2009. Presence of interstereocilial links in waltzer mutants suggests Cdh23 is not essential for tip link formation. Neuroscience 158(2):365-8. [PubMed: 18996172]  [MGI Ref ID J:145900]

Swank RT; Reddington M; Howlett O; Novak EK. 1991. Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha. Blood 78(8):2036-44. [PubMed: 1912584]  [MGI Ref ID J:29151]

Wilson SM; Householder DB; Coppola V; Tessarollo L; Fritzsch B; Lee EC; Goss D; Carlson GA; Copeland NG; Jenkins NA. 2001. Mutations in Cdh23 Cause Nonsyndromic Hearing Loss in waltzer Mice. Genomics 74(2):228-33. [PubMed: 11386759]  [MGI Ref ID J:69985]

van Abeelen JH. 1966. Behavioural profiles of neurological mutant mice. Genetica 37(2):149-58. [PubMed: 5955164]  [MGI Ref ID J:133042]

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]

Mlph^ln related

Anderson MG; Hawes NL; Trantow CM; Chang B; John SW. 2008. Iris phenotypes and pigment dispersion caused by genes influencing pigmentation. Pigment Cell Melanoma Res 21(5):565-78. [PubMed: 18715234]  [MGI Ref ID J:141035]

Fisher RA. 1953. The linkage of polydactyly with leaden in the house mouse. Heredity 7:91-95.  [MGI Ref ID J:12979]

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]

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

Hume AN; Collinson LM; Hopkins CR; Strom M; Barral DC; Bossi G; Griffiths GM; Seabra MC. 2002. The leaden gene product is required with Rab27a to recruit myosin Va to melanosomes in melanocytes. Traffic 3(3):193-202. [PubMed: 11886590]  [MGI Ref ID J:105323]

Hume AN; Tarafder AK; Ramalho JS; Sviderskaya EV; Seabra MC. 2006. A coiled-coil domain of melanophilin is essential for Myosin Va recruitment and melanosome transport in melanocytes. Mol Biol Cell 17(11):4720-35. [PubMed: 16914517]  [MGI Ref ID J:117973]

Karolyi IJ; Dootz GA; Halsey K; Beyer L; Probst FJ; Johnson KR; Parlow AF; Raphael Y; Dolan DF; Camper SA. 2007. Dietary thyroid hormone replacement ameliorates hearing deficits in hypothyroid mice. Mamm Genome 18(8):596-608. [PubMed: 17899304]  [MGI Ref ID J:125708]

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]

Matesic LE; Yip R; Reuss AE; Swing DA; O'Sullivan TN; Fletcher CF; Copeland NG; Jenkins NA. 2001. Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice. Proc Natl Acad Sci U S A 98(18):10238-43. [PubMed: 11504925]  [MGI Ref ID J:71302]

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]

Moore KJ; Swing DA; Rinchik EM; Mucenski ML; Buchberg AM; Copeland NG; Jenkins NA. 1988. The murine dilute suppressor gene dsu suppresses the coat-color phenotype of three pigment mutations that alter melanocyte morphology, d, ash and ln. Genetics 119(4):933-41. [PubMed: 3410303]  [MGI Ref ID J:9309]

Murray JM. 1933. "Leaden", a recent color mutation in the house mouse. Am Naturalist 67:278-283.  [MGI Ref ID J:17162]

Nadeau JH. 2001. Modifier genes in mice and humans. Nat Rev Genet 2(3):165-74. [PubMed: 11256068]  [MGI Ref ID J:88013]

Novak EK; Hui SW; Swank RT. 1984. Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. Blood 63(3):536-44. [PubMed: 6696991]  [MGI Ref ID J:7327]

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]

Stephenson DA; Glenister PH; Hornby JE. 1985. Site of beige (bg) and leaden (ln) pigment gene expression determined by recombinant embryonic skin grafts and aggregation mouse chimaeras employing sash (Wsh) homozygotes. Genet Res 46(2):193-205. [PubMed: 3910518]  [MGI Ref ID J:8167]

Sweet SE; Quevedo WC Jr. 1968. Role of melanocyte morphology in pigmentation of mouse hair. Anat Rec 162(2):243-54. [PubMed: 5726144]  [MGI Ref ID J:5095]

Ward RD; Stone BM; Raetzman LT; Camper SA. 2006. Cell proliferation and vascularization in mouse models of pituitary hormone deficiency. Mol Endocrinol 20(6):1378-90. [PubMed: 16556738]  [MGI Ref ID J:108961]

Sgk3^fz related

Campagna DR; Custodio AO; Antiochos BB; Cirlan MV; Fleming MD. 2008. Mutations in the Serum/Glucocorticoid regulated kinase 3 (Sgk3) are responsible for the mouse Fuzzy (fz) hair phenotype J Invest Dermatol 128(3):730-2. [PubMed: 17914447]  [MGI Ref ID J:125551]

DICKIE MM; WOOLLEY GW. 1950. Fuzzy mice. J Hered 41(7):193-6. [PubMed: 14779004]  [MGI Ref ID J:90]

Hogan ME; King LE Jr; Sundberg JP. 1995. Defects of pelage hairs in 20 mouse mutations. J Invest Dermatol 104(5 Suppl):31S-32S. [PubMed: 7738386]  [MGI Ref ID J:25255]

Hume AN; Collinson LM; Hopkins CR; Strom M; Barral DC; Bossi G; Griffiths GM; Seabra MC. 2002. The leaden gene product is required with Rab27a to recruit myosin Va to melanosomes in melanocytes. Traffic 3(3):193-202. [PubMed: 11886590]  [MGI Ref ID J:105323]

MANN SJ. 1964. THE HAIR OF THE FUZZY MOUSE. J Hered 55:121-3. [PubMed: 14170401]  [MGI Ref ID J:13086]

Mayer TC; Mittelberger JA; Green MC. 1974. The site of action of the fuzzy locus (fz) in the mouse, as determined by dermal-epidermal recombinations. J Embryol Exp Morphol 32(3):707-13. [PubMed: 4618567]  [MGI Ref ID J:5551]

Monroe; Major MH; Hawkins MS. 1958. Hair abnormality (fz) Mouse News Lett 19:37.  [MGI Ref ID J:13377]

Novak EK; Hui SW; Swank RT. 1984. Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. Blood 63(3):536-44. [PubMed: 6696991]  [MGI Ref ID J:7327]

Sundberg JP (ed.). 1994. Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. In: Handbook of Mouse Mutations with Skin and Hair Abnormalities: Animal Models and Biomedical Tools. CRC Press, Boca Raton.  [MGI Ref ID J:30359]

Trigg MJ. 1972. Hair growth in mouse mutants affecting coat texture. J Zool 168:165-198.  [MGI Ref ID J:15247]

Health & husbandry

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Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, RG10/RG30.

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This strain is homozygous for fz, Mlph^ln, and Ednrb^s, and is segregating for Cdh23^v.

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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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