JAX
Mouse Strain Datasheet - 000275
V/LeJ
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 (Mlphln), and piebald (Ednrbs) and is segregating for the neurological mutation, waltzer (Cdh23v). 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.
Research Applications
- Developmental Biology Research
- Neurobiology Research
- Sensorineural Research
- Dermatology Research
Important Note
This strain is homozygous for fz, Mlphln, and Ednrbs, and is segregating for Cdh23v.
Detailed 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 (Mlphln), and piebald (Ednrbs) and is segregating for the neurological mutation, waltzer (Cdh23v). 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 Suggestions
Cdh23v
Allele Symbol: Cdh23v
| Allele Name | waltzer |
|---|---|
| Allele Type | Spontaneous |
| Allele Synonym(s) | v |
| Gene Symbol and Name | Cdh23, cadherin 23 (otocadherin) |
| Gene Synonym(s) | 4930542A03Rik; 4930542A03Rik; CDHR23; RIKEN cDNA 4930542A03 gene; USH1D; W; age related hearing loss 1; ahl; ahl; bob; bob; bobby; bus; bustling; mdfw; mdfw; modifier of deaf waddler; neuroscience mutagenesis facility, 112; neuroscience mutagenesis facility, 181; neuroscience mutagenesis facility, 252; nmf112; nmf112; nmf181; nmf181; nmf252; nmf252; sals; sals; salsa; v; waltzer |
| Strain of Origin | old mutant of the mouse fancy |
| Chromosome | 10 |
| 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. |
Ednrbs
Allele Symbol: Ednrbs
| Allele Name | piebald |
|---|---|
| Allele Type | Spontaneous |
| Allele Synonym(s) | pied spotting; s |
| Gene Symbol and Name | Ednrb, endothelin receptor type B |
| Gene Synonym(s) | ABCDS; AU022549; ET-B; ET-BR; ETB; ETB1; ETBR; ETR-b; ETRB; ETb; Ednra; Etb; HSCR; HSCR2; Sox10m1; WS4A; expressed sequence AU022549; piebald; s |
| Strain of Origin | old mutant of the mouse fancy |
| Chromosome | 14 |
| 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. |
| 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. |
Mlphln
Allele Symbol: Mlphln
| Allele Name | leaden |
|---|---|
| Allele Type | Spontaneous |
| Allele Synonym(s) | ln |
| Gene Symbol and Name | Mlph, melanophilin |
| Gene Synonym(s) | 2210418F23Rik; 5031433I09Rik; AW228792; D1Wsu84e; D1Wsu84e; DNA segment, Chr 1, Wayne State University 84, expressed; SLAC2-A; Slac-2a; expressed sequence AW228792; leaden; ln |
| Strain of Origin | C57BR |
| Chromosome | 1 |
| 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. |
Sgk3fz
Allele Symbol: Sgk3fz
| Allele Name | fuzzy |
|---|---|
| Allele Type | Spontaneous |
| Allele Synonym(s) | |
| Gene Symbol and Name | Sgk3, serum/glucocorticoid regulated kinase 3 |
| Gene Synonym(s) | 2510015P22Rik; 2510015P22Rik; A330005P07Rik; A330005P07Rik; CISK; Cisk; RIKEN cDNA 2510015P22 gene; RIKEN cDNA A330005P07 gene; SGK2; SGKL; Sgkl; cytokine-independent survival kinase; frowzy; fuzzy; fy; fy; fz |
| Strain of Origin | CFW stock |
| Chromosome | 1 |
| 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. |
Disease Terms
Research Areas By Genotype
This mouse can be used to support research in many areas including:
Genotype: Cdh23v related
- Developmental Biology Research
- Defects in Cell Adhesion Molecules
- Neurobiology Research
- Hearing Defects
- deafness, nonsyndromic autosomal recessive 12 (DFNB12)
- Vestibular Defects
- Hearing Defects
- Sensorineural Research
- Hearing Defects
- deafness, nonsyndromic autosomal recessive 12 (DFNB12)
- Vestibular Defects
- Hearing Defects
Genotype: Ednrbs 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
Genotype: Mlphln related
- Dermatology Research
- Color and White Spotting Defects
Genotype: Sgk3fz related
- Dermatology Research
- Skin and Hair Texture Defects
Mammalian Phenotype Terms by Genotype
Genotype: Cdh23v/Cdh23v
V/LeJ
homeostasis/metabolism phenotype
- homeostasis/metabolism phenotype
- no aberrant bleeding time after tail vein nick (MGI Ref ID J:29151)
The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain
Genotype: Cdh23v/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)
Genotype: Cdh23v/Cdh23v
involves: CBA/Ca
vision/eye phenotype
- 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)
- vision/eye phenotype
- no histological abnormalities are seen and no evidence of photoreceptor cell loss is detected (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
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)
Genotype: Cdh23v/Cdh23v
involves: fancier's stocks
behavior/neurological phenotype
- abnormal gait
- waddling gait (MGI Ref ID J:133042)
- abnormal locomotor behavior
- no wire mesh climbing is seen in males (MGI Ref ID J:133042)
- abnormal response to novelty
- abnormal stationary movement
- decrease in the frequency of single forepaw lifts in males (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)
- decreased vertical activity
- no rearing behavior is seen in males (MGI Ref ID J:133042)
- head shaking
- (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)
Genotype: Cdh23v/Cdh23v
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)
References
Additional References
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- 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: 11138009MGI: 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: 8001159MGI: J:22206
Additional - Cdh23v related
- Cosgrove D; Zallocchi M. 2014. Usher protein functions in hair cells and photoreceptors. Int J Biochem Cell Biol 46:80-9. PubMed: 24239741MGI: J:218725
- 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: 13336002MGI: 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: 11750125MGI: 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: 16219682MGI: J:102194
- 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: 12121736MGI: J:108877
- 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: 14648237MGI: J:134369
- 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: 16579977MGI: 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: 13853422MGI: J:15164
- Karp NA; Baker LA; Gerdin AK; Adams NC; Ramirez-Solis R; White JK. 2010. Optimising experimental design for high-throughput phenotyping in mice: a case study. Mamm Genome 21(9-10):467-76. PubMed: 20799038MGI: J:167648
- Keeler CE. 1931. . In: The Laboratory Mouse. Its Origin, Heredity, and Culture. Harvard Univ. Press, Cambridge, MA. MGI: 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: 14609561MGI: 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: 21689626MGI: 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: 16545802MGI: 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: 18996172MGI: J:145900
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- van Abeelen JH. 1966. Behavioural profiles of neurological mutant mice. Genetica 37(2):149-58. PubMed: 5955164MGI: J:133042
Additional - Ednrbs related
- Asher JH Jr; Friedman TB. 1990. Mouse and hamster mutants as models for Waardenburg syndromes in humans. J Med Genet 27(10):618-26. PubMed: 2246770MGI: J:200892
- BIELSCHOWSKY M; SCHOFIELD GC. 1962. Studies on megacolon in piebald mice. Aust J Exp Biol Med Sci 40:395-403. PubMed: 13968171MGI: J:12312
- BILLINGHAM RE; SILVERS WK. 1960. The melanocytes of mammals. Q Rev Biol 35:1-40. PubMed: 13800713MGI: J:15014
- Bondurand N; Southard-Smith EM. 2016. Mouse models of Hirschsprung disease and other developmental disorders of the enteric nervous system: Old and new players. Dev Biol 417(2):139-57. PubMed: 27370713MGI: J:235629
- 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: 15294878MGI: 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: 12355085MGI: J:112429
- Cattanach BM. 1961. A chemically-induced variegated-type position effect in the mouse. Z Vererbungsl 92:165-82. PubMed: 13877379MGI: J:160128
- 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: 22067082MGI: J:193523
- Deol MS. 1971. Spotting genes and internal pigmentation patterns in the mouse. J Embryol Exp Morphol 26(1):123-33. PubMed: 5565074MGI: J:5220
- Dunn LC. 1920. Types of white spotting in mice Am Naturalist 54:465-95. MGI: 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: 17246828MGI: 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: 17246842MGI: 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: 16589191MGI: 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: 5055128MGI: J:5291
- Gruneberg H. 1952. . In: The Genetics of the Mouse. Martinus Nijhoff, The Hague. MGI: 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: 5713933MGI: 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: 8001159MGI: 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: 16587618MGI: 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: 9434939MGI: 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: 10067171MGI: 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: 10626068MGI: J:60070
- Lamoreux ML. 1999. Strain-specific white-spotting patterns in laboratory mice Pigment Cell Res 12(6):383-90. PubMed: 10614578MGI: 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: 17247639MGI: 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: 11773966MGI: J:76584
- Mayer TC. 1967. Pigment cell migration in piebald mice. Dev Biol 15(6):521-35. PubMed: 5340422MGI: J:5036
- Mayer TC. 1965. The development of piebald spotting in mice. Dev Biol 11:319-334. PubMed: 5320391MGI: J:12725
- Mayer TC. 1977. Enhancement of melanocyte development from piebald neural crest by a favorable tissue environment. Dev Biol 56(2):255-62. PubMed: 849800MGI: J:5782
- Mayer TC. 1967. Temporal skin factors influencing the development of melanoblasts in piebald mice. J Exp Zool 166(3):397-403. PubMed: 4868265MGI: J:5060
- 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: 12574515MGI: 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: 8138159MGI: 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: 2379821MGI: 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: 14615959MGI: J:86743
- Oak Ridge National Laboratory. 2005. Information obtained from the Oak Ridge National Laboratory Mutant Mouse Database (ORNL), Oak Ridge, TN Unpublished :. MGI: 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: 10198387MGI: J:54703
- PIERRO LJ; CHASE HB. 1963. Slate--a new coat color mutant in the mouse. J Hered 54:47-50. PubMed: 13943454MGI: 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: 8717053MGI: 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: 16339294MGI: 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: 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: 9853966MGI: 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: 16500897MGI: J:110573
Additional - Mlphln 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: 18715234MGI: J:141035
- Fang Q; Giordimaina AM; Dolan DF; Camper SA; Mustapha M. 2012. Genetic background of Prop1(df) mutants provides remarkable protection against hypothyroidism-induced hearing impairment. J Assoc Res Otolaryngol 13(2):173-84. PubMed: 22143287MGI: J:225046
- Fisher RA. 1953. The linkage of polydactyly with leaden in the house mouse. Heredity 7:91-95. MGI: 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: 5713933MGI: 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: 4634048MGI: 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: 11886590MGI: 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: 16914517MGI: 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: 17899304MGI: 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: 17247639MGI: 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: 11504925MGI: 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: 2379821MGI: J:29467
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- Murray JM. 1933. "Leaden", a recent color mutation in the house mouse. Am Naturalist 67:278-283. MGI: J:17162
- Nadeau JH. 2001. Modifier genes in mice and humans. Nat Rev Genet 2(3):165-74. PubMed: 11256068MGI: 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: 6696991MGI: 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: J:78801
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Additional - Sgk3fz related
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- DICKIE MM; WOOLLEY GW. 1950. Fuzzy mice. J Hered 41(7):193-6. PubMed: 14779004MGI: 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: 7738386MGI: 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: 11886590MGI: J:105323
- MANN SJ. 1964. THE HAIR OF THE FUZZY MOUSE. J Hered 55:121-3. PubMed: 14170401MGI: J:13086
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- Monroe; Major MH; Hawkins MS. 1958. Hair abnormality (fz) Mouse News Lett 19:37. MGI: 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: 6696991MGI: 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: J:30359
- Trigg MJ. 1972. Hair growth in mouse mutants affecting coat texture. J Zool 168:165-198. MGI: J:15247