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 STOCK Pax3Sp ln    (Changed: 15-DEC-04 ) Type Mutant Stock; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation F3+p

Related Strains

Strains carrying   Mlph^ln allele

000112	B6.Cg-Sgk3fz H54 Mlphln/+ H54 +/J
000668	C57L/J
000643	DW/J Mlphln Pou1f1dw/J
000275	V/LeJ

View Strains carrying   Mlph^ln     (4 strains)

Strains carrying   Pax3^Sp allele

000311	B6-Pax3Sp.Cg-N/J
002469	C57BL/6J-Pax3Sp/J

View Strains carrying   Pax3^Sp     (2 strains)

Strains carrying other alleles of Mlph

000681	DW.C3-Mlph+ Pou1f1+/J
001640	STOCK Mlphln-l1Rk3/J

View Strains carrying other alleles of Mlph     (2 strains)

Strains carrying other alleles of Pax3

005549	B6;129-Pax3tm1(cre)Joe/J
000565	C57BL/6J-Pax3Sp-d/J

View Strains carrying other alleles of Pax3     (2 strains)

Phenotype

Phenotype Information

View Mammalian Phenotype Terms

Mammalian Phenotype Terms

      assigned by genotype

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

Mlph^ln/Mlph^ln

        C57BR

• pigmentation phenotype
• diluted coat color (MGI Ref ID J:17162)
  • melanin synthesis is normal but melanosomes transport is impaired resulting in a "leaden" coat color
• skin/coat/nails phenotype
• diluted coat color (MGI Ref ID J:17162)
  • melanin synthesis is normal but melanosomes transport is impaired resulting in a "leaden" coat color

Mlph^ln/Mlph^ln

        B6.Cg-Sgk3^fz H54 Mlph^ln/+ H54 +/J

• pigmentation phenotype
• *normal* pigmentation phenotype (MGI Ref ID J:141035)
  • mice exhibit wild-type iris pigmentation

Pax3^Sp/Pax3⁺

        C57BL-Pax3^Sp

• pigmentation phenotype
• white spotting (MGI Ref ID J:12957)
  • occasional spotting on the back and increased spotting on the tail compared to wild-type mice
  • the feet are usually white
• belly spot (MGI Ref ID J:12957)
• skin/coat/nails phenotype
• white spotting (MGI Ref ID J:12957)
  • occasional spotting on the back and increased spotting on the tail compared to wild-type mice
  • the feet are usually white
• belly spot (MGI Ref ID J:12957)

Pax3^Sp/Pax3⁺

        involves: C3HeB * C57BL * C57BL/6J * SWV

• nervous system phenotype
• spina bifida (MGI Ref ID J:114747)
  • increased incidence of spina bifida induced by in utero exposure to 50 mg/kg trans-retinoic acid compared to treated wild-type littermates
• embryogenesis phenotype
• spina bifida (MGI Ref ID J:114747)
  • increased incidence of spina bifida induced by in utero exposure to 50 mg/kg trans-retinoic acid compared to treated wild-type littermates

Pax3^Sp/Pax3⁺

        involves: C57BL * C57BL/6J * CBA

• hearing/vestibular/ear phenotype
• *normal* hearing/vestibular/ear phenotype (MGI Ref ID J:2179)
  • auditory function and ear morphology are similar to wild type mice auditory function and ear morphology are similar to wild-type mice

Pax3^Sp/Pax3^Sp

        C57BL-Pax3^Sp

• lethality-prenatal/perinatal
• lethality throughout fetal growth and development (MGI Ref ID J:12957)
  • die around E14
• nervous system phenotype
• abnormal brain ventricle morphology (MGI Ref ID J:13016)
  • at E10 or later, the lumen of the brain is highly distorted and partially collapsed or obliterated by the excessive overgrowth of neural tissue
  • the lumen in the region of the myelencephalon and rhombencephalon are most sevely affected
• abnormal dorsal root ganglion morphology (MGI Ref ID J:13016)
  • in the region of the anterior limb buds spinal ganglia are absent or greatly reduced in size, disorganized, and abnormally located on the dorsal part of the neural tube
  • the lumbo-sacral region spinal ganglia are usually absent
• abnormal midbrain development (MGI Ref ID J:13016)
  • the lumen in the mesencephalic region is greatly reduced and obscured by neural tissue
  • at E10 and E11, mesencephalic ventricular cells display increased generation time, increased mitotic index, and prolonged mitosis, S phase, and G1
• abnormal neural tube morphology/development (MGI Ref ID J:13016)
  • overgrowth of neural tissue in the region of the open neural tube is variable and becomes more pronounced with age
  • neural overgrowth occurs laterad from the mid-dorsal line of the neural folds
  • ventricular cells in the upper lumbar neural tube and lower lumbar and sacral neural groove contain many gap junctional vesicles that are rarely seen in wild-type or heterozygous mice
• open neural tube (MGI Ref ID J:13016)
  • at E9.5, neural folds are open in the hindlimb region with aggregation of neural tissue on both sides of the dorsal midline
  • at E10 - E12.5, the extent to which the neural fold are open is highly variable ranging from just a small area in the lumbo-sacral region up to from the lumbo-sacral region to the tip of the tail
  • the extent of the area of open neural tube tends to increase in proportion to growth of the embryo
  • open neural folds generally limited to the hindbrain region are seen in about 56% of mice at E10, these are always associated with overgrowth of neural tissue
  • open neural folds in the hindbrain region
• spina bifida (MGI Ref ID J:12957)
• small telencephalic vesicles (MGI Ref ID J:13016)
  • vesicles appear as a network of small channels
• limbs/digits/tail phenotype
• abnormal tail morphology (MGI Ref ID J:13016)
  • distorted shape correlated to degree of rachischisis and neural overgrowth
  • hematomas are frequently found in regions of tail curvature
• kinked tail (MGI Ref ID J:12957)
• pigmentation phenotype
• absent coat pigmentation (MGI Ref ID J:13016)
  • embryonic tissue explants allowed to develop until hair is formed display well developed hairs that are devoid of pigment
• absent skin pigmentation (MGI Ref ID J:13016)
  • embryonic tissue explants allowed to develop until the time when pigment would normally form are devoid of pigment
• skin/coat/nails phenotype
• absent coat pigmentation (MGI Ref ID J:13016)
  • embryonic tissue explants allowed to develop until hair is formed display well developed hairs that are devoid of pigment
• absent skin pigmentation (MGI Ref ID J:13016)
  • embryonic tissue explants allowed to develop until the time when pigment would normally form are devoid of pigment
• cellular phenotype
• increased mitotic index (MGI Ref ID J:13016)
  • at E10 and 11, mesencephalic ventricular cells have increased mitotic index compared to wild-type
• embryogenesis phenotype
• abnormal neural tube morphology/development (MGI Ref ID J:13016)
  • overgrowth of neural tissue in the region of the open neural tube is variable and becomes more pronounced with age
  • neural overgrowth occurs laterad from the mid-dorsal line of the neural folds
  • ventricular cells in the upper lumbar neural tube and lower lumbar and sacral neural groove contain many gap junctional vesicles that are rarely seen in wild-type or heterozygous mice
• open neural tube (MGI Ref ID J:13016)
  • at E9.5, neural folds are open in the hindlimb region with aggregation of neural tissue on both sides of the dorsal midline
  • at E10 - E12.5, the extent to which the neural fold are open is highly variable ranging from just a small area in the lumbo-sacral region up to from the lumbo-sacral region to the tip of the tail
  • the extent of the area of open neural tube tends to increase in proportion to growth of the embryo
  • open neural folds generally limited to the hindbrain region are seen in about 56% of mice at E10, these are always associated with overgrowth of neural tissue
  • open neural folds in the hindbrain region
• spina bifida (MGI Ref ID J:12957)

Pax3^Sp/Pax3^Sp

        involves: C57BL

• lethality-prenatal/perinatal
• embryonic lethality during organogenesis (MGI Ref ID J:11996)
  • mice die earlier compared to homozygotes on a congenic C57BR background
  • die around E13-E14
• muscle phenotype
• abnormal myogenesis (MGI Ref ID J:112275)
  • lack myogenic cells in the forming limb buds and hypoglossal cord at E11.5
  • at E10.5 Pax3 expressing cells are absent from the forelimb and hindlimb buds
  • at E12.5 expression of muscle specific markers myogenin and acetylcholinesterase are absent from the forelimb buds and expression of acetylcholinesterase is also absent from the hindlimb buds
  • limb buds from E11 embryos cultured for 4 days fail to generate any cells expressing early myogenic markers (desmin and sarcomeric myosin)
  • however, cells from somites grafted into chick limbs are able to undergo myogenic differentiation
• abnormal dermomyotome development (MGI Ref ID J:112275)
  • foreshortening of the epaxial domain and complete loss of the hypaxial domain of the dermomyotome at E10.5
  • at E9.25, premature termination of the dermamyotome at the same level as the ventral lip of the axial myotome with absence of any epithelial structure in the ventral portion
• abnormal muscle progenitor cell migration (MGI Ref ID J:32016)
  • DiI injections into the 3 somites immediately adjacent to the forelimb bud between E9.25 and E9.5 reveal impaired cell migration with no cell moving more than 30 - 40 um from the site of injection
• nervous system phenotype
• open neural tube (MGI Ref ID J:114748)
  • 10 of 13 had open neural tube in sacro-caudal and cranial regions while in the other 3 the defect was confined to the sacro-caudal region
• spina bifida (MGI Ref ID J:112275)
  • treatment with folate solution of heterozygous females crossed to heterozygous males results in 40% decrease in spina bifida incidence in homozygous embryos examined at midgestation
• hearing/vestibular/ear phenotype
• abnormal bony labyrinth (MGI Ref ID J:114748)
  • all labyrinth structures are abnormal in mice where the neural tube defect extend into the cranial region; however in mice with only sacro-caudal neural tube defects ear morphology is normal
• abnormal endolymphatic duct morphology (MGI Ref ID J:114748)
  • at E10, the origin of endolymphatic duct is shifted backwards and upwards and the duct is shorter and conical in shape
  • at E11 the duct extends backwards and outwards rather than vertically upwards as in wild-type mice
• short endolymphatic duct (MGI Ref ID J:114748)
  • at E10, the endolymphatic duct is shorter than normal
• abnormal otic vesicle development (MGI Ref ID J:114748)
  • in mice where the neural tube defect extends to the cranial region
• abnormal saccule morphology (MGI Ref ID J:114748)
  • difficult to distinguish and highly abnormal
• abnormal semicircular canal (MGI Ref ID J:114748)
  • present but abnormally located in terms of their planes, point of origin, and relationship to other structures in the labyrinth
• abnormal utricle morphology (MGI Ref ID J:114748)
  • difficult to distinguish and highly abnormal
• decreased cochlear coiling (MGI Ref ID J:114748)
  • at E12 cochlear coiling is poor
• embryogenesis phenotype
• open neural tube (MGI Ref ID J:114748)
  • 10 of 13 had open neural tube in sacro-caudal and cranial regions while in the other 3 the defect was confined to the sacro-caudal region
• spina bifida (MGI Ref ID J:112275)
  • treatment with folate solution of heterozygous females crossed to heterozygous males results in 40% decrease in spina bifida incidence in homozygous embryos examined at midgestation

Pax3^Sp/Pax3^Sp

        BR.B-Pax3^Sp

• lethality-prenatal/perinatal
• perinatal lethality (MGI Ref ID J:11996)
  • mice die later compared to mice on a mixed genetic background that includes C57BL
  • die around E18-E19
• nervous system phenotype
• spina bifida (MGI Ref ID J:11996)
  • spina bifida aperta in the lumbosacral area
• embryogenesis phenotype
• spina bifida (MGI Ref ID J:11996)
  • spina bifida aperta in the lumbosacral area

Pax3^Sp/Pax3^Sp

        involves: 129S2/SvPas * C57BL * C57BL/6J * FVB

• nervous system phenotype
• abnormal embryonic neuroepithelium morphology (MGI Ref ID J:75569)
  • smany apoptotic neuroepithelial cells seen at the site of the neural tube defect
• open neural tube (MGI Ref ID J:75569)
  • seen in all mice
  • treatment with pifithrin-alpha from E8.5 to E9.5 prevented neural tube defects in 55% of embryos
• embryogenesis phenotype
• abnormal embryonic neuroepithelium morphology (MGI Ref ID J:75569)
  • smany apoptotic neuroepithelial cells seen at the site of the neural tube defect
• open neural tube (MGI Ref ID J:75569)
  • seen in all mice
  • treatment with pifithrin-alpha from E8.5 to E9.5 prevented neural tube defects in 55% of embryos

View Research Applications

Research Applications

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

Mlph^ln related

Dermatology Research
Color and White Spotting Defects

Pax3^Sp related

Developmental Biology Research
Neural Crest Defects
Neural Tube Defects

Mouse/Human Gene Homologs
Waardenburg syndrome, type I

Neurobiology Research
Neural Tube Defects

Genes & Alleles

Gene & Allele Information

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; MGC2771; MGC59733; 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		Pax3Sp
Allele Name		splotch
Allele Type		Spontaneous
Common Name(s)		Sp;
Strain of Origin		C57BL
Gene Symbol and Name		Pax3, paired box gene 3
Chromosome		1
Gene Common Name(s)		CDHS; HUP2; MGC120381; MGC120382; MGC120383; MGC120384; MGC134778; Pax-3; Sp; WS1; splotch;
Molecular Note		An A to T transversion at the invariant 3' AG splice acceptor of intron 3 was identified in this allele. This mutation abrogates the normal splicing of intron 3, resulting in the generation of four aberrantly spliced mRNA transcripts. Two of these Pax-3 transcripts make use of cryptic 3' splice sites within the downstream exon, generating small deletions which disrupt the reading frame of the transcripts. A third aberrant splicing event results in the deletion of exon 4, while a fourth retains intron 3. These aberrantly spliced mRNA transcripts are not expected to result in functional Pax3 proteins. [MGI Ref ID J:3731]

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

Additional References

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]

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]

Pax3^Sp related

Auerbach R. 1954. Analysis of the developmental effects of a lethal mutation in the house mouse. J Exp Zool 127:305-329.  [MGI Ref ID J:13016]

Bajard L; Relaix F; Lagha M; Rocancourt D; Daubas P; Buckingham ME. 2006. A novel genetic hierarchy functions during hypaxial myogenesis: Pax3 directly activates Myf5 in muscle progenitor cells in the limb. Genes Dev 20(17):2450-64. [PubMed: 16951257]  [MGI Ref ID J:112275]

Bajolle F; Zaffran S; Kelly RG; Hadchouel J; Bonnet D; Brown NA; Buckingham ME. 2006. Rotation of the myocardial wall of the outflow tract is implicated in the normal positioning of the great arteries. Circ Res 98(3):421-8. [PubMed: 16397144]  [MGI Ref ID J:118891]

Bennett GD; An J; Craig JC; Gefrides LA; Calvin JA; Finnell RH. 1998. Neurulation abnormalities secondary to altered gene expression in neural tube defect susceptible splotch embryos Teratology 57(1):17-29. [PubMed: 9516748]  [MGI Ref ID J:46128]

Bober E; Franz T; Arnold HH; Gruss P; Tremblay P. 1994. Pax-3 is required for the development of limb muscles: a possible role for the migration of dermomyotomal muscle progenitor cells. Development 120(3):603-12. [PubMed: 8162858]  [MGI Ref ID J:17224]

Borycki AG; Li J; Jin F; Emerson CP; Epstein JA. 1999. Pax3 functions in cell survival and in pax7 regulation. Development 126(8):1665-74. [PubMed: 10079229]  [MGI Ref ID J:55248]

Brown CB; Feiner L; Lu MM; Li J; Ma X; Webber AL; Jia L; Raper JA; Epstein JA. 2001. PlexinA2 and semaphorin signaling during cardiac neural crest development. Development 128(16):3071-80. [PubMed: 11688557]  [MGI Ref ID J:71241]

Chalepakis G; Goulding M; Read A; Strachan T; Gruss P. 1994. Molecular basis of splotch and Waardenburg Pax-3 mutations. Proc Natl Acad Sci U S A 91(9):3685-9. [PubMed: 7909605]  [MGI Ref ID J:18260]

Daston G; Lamar E; Olivier M; Goulding M. 1996. Pax-3 is necessary for migration but not differentiation of limb muscle precursors in the mouse. Development 122(3):1017-27. [PubMed: 8631247]  [MGI Ref ID J:32016]

Davidson CE; Li Q; Churchill GA; Osborne LR; McDermid HE. 2007. Modifier locus for exencephaly in Cecr2 mutant mice is syntenic to the 10q25.3 region associated with neural tube defects in humans. Physiol Genomics 31(2):244-51. [PubMed: 17623803]  [MGI Ref ID J:127218]

Dempsey EE; Trasler DG. 1983. Early morphological abnormalities in splotch mouse embryos and predisposition to gene- and retinoic acid-induced neural tube defects. Teratology 28(3):461-72. [PubMed: 6665745]  [MGI Ref ID J:114747]

Deol MS. 1966. Influence of the neural tube on the differentiation of the inner ear in the mammalian embryo. Nature 209(5019):219-20. [PubMed: 5912439]  [MGI Ref ID J:114748]

Epstein DJ; Vogan KJ; Trasler DG; Gros P. 1993. A mutation within intron 3 of the Pax-3 gene produces aberrantly spliced mRNA transcripts in the splotch (Sp) mouse mutant. Proc Natl Acad Sci U S A 90(2):532-6. [PubMed: 8421686]  [MGI Ref ID J:3731]

Epstein JA; Li J; Lang D; Chen F; Brown CB; Jin F; Lu MM; Thomas M; Liu E; Wessels A; Lo CW. 2000. Migration of cardiac neural crest cells in Splotch embryos. Development 127(9):1869-78. [PubMed: 10751175]  [MGI Ref ID J:61431]

Epstein JA; Shapiro DN; Cheng J; Lam PY; Maas RL. 1996. Pax3 modulates expression of the c-Met receptor during limb muscle development. Proc Natl Acad Sci U S A 93(9):4213-8. [PubMed: 8633043]  [MGI Ref ID J:32900]

Ernest S; Christensen B; Gilfix BM; Mamer OA; Hosack A; Rodier M; Colmenares C; McGrath J; Bale A; Balling R; Sankoff D; Rosenblatt DS; Nadeau JH. 2002. Genetic and molecular control of folate-homocysteine metabolism in mutant mice. Mamm Genome 13(5):259-67. [PubMed: 12016514]  [MGI Ref ID J:76559]

Goulding M; Lumsden A; Paquette AJ. 1994. Regulation of Pax-3 expression in the dermomyotome and its role in muscle development. Development 120(4):957-71. [PubMed: 7600971]  [MGI Ref ID J:18227]

Goulding M; Sterrer S; Fleming J; Balling R; Nadeau J; Moore KJ; Brown SD; Steel KP; Gruss P. 1993. Analysis of the Pax-3 gene in the mouse mutant splotch. Genomics 17(2):355-63. [PubMed: 8406486]  [MGI Ref ID J:13559]

Griffith AV; Cardenas K; Carter C; Gordon J; Iberg A; Engleka K; Epstein JA; Manley NR; Richie ER. 2009. Increased thymus- and decreased parathyroid-fated organ domains in Splotch mutant embryos. Dev Biol 327(1):216-27. [PubMed: 19135046]  [MGI Ref ID J:145693]

Grifone R; Demignon J; Giordani J; Niro C; Souil E; Bertin F; Laclef C; Xu PX; Maire P. 2007. Eya1 and Eya2 proteins are required for hypaxial somitic myogenesis in the mouse embryo. Dev Biol 302(2):602-16. [PubMed: 17098221]  [MGI Ref ID J:119948]

Helmbacher F; Dessaud E; Arber S; deLapeyriere O; Henderson CE; Klein R; Maina F. 2003. Met signaling is required for recruitment of motor neurons to PEA3-positive motor pools. Neuron 39(5):767-77. [PubMed: 12948444]  [MGI Ref ID J:85300]

Hill AL; Phelan SA; Loeken MR. 1998. Reduced expression of pax-3 is associated with overexpression of cdc46 in the mouse embryo. Dev Genes Evol 208(3):128-34. [PubMed: 9601985]  [MGI Ref ID J:48291]

Hornyak TJ; Hayes DJ; Chiu L; Ziff EB. 2001. Transcription factors in melanocyte development: distinct roles for Pax-3 and Mitf. Mech Dev 101(1-2):47-59. [PubMed: 11231058]  [MGI Ref ID J:68168]

Houzelstein D; Cheraud Y; Auda-Boucher G; Fontaine-Perus J; Robert B. 2000. The expression of the homeobox gene Msx1 reveals two populations of dermal progenitor cells originating from the somites. Development 127(10):2155-64. [PubMed: 10769239]  [MGI Ref ID J:61521]

Kapron-Bras CM; Trasler DG. 1984. Gene-teratogen interaction and its morphological basis in retinoic acid-induced mouse spina bifida. Teratology 30(1):143-50. [PubMed: 6385329]  [MGI Ref ID J:114749]

Kapron-Bras CM; Trasler DG. 1985. Reduction in the frequency of neural tube defects in splotch mice by retinoic acid. Teratology 32(1):87-92. [PubMed: 3898457]  [MGI Ref ID J:8010]

Kassar-Duchossoy L; Giacone E; Gayraud-Morel B; Jory A; Gomes D; Tajbakhsh S. 2005. Pax3/Pax7 mark a novel population of primitive myogenic cells during development. Genes Dev 19(12):1426-31. [PubMed: 15964993]  [MGI Ref ID J:98918]

Kochilas LK; Li J; Jin F; Buck CA; Epstein JA. 1999. p57Kip2 expression is enhanced during mid-cardiac murine development and is restricted to trabecular myocardium. Pediatr Res 45(5 Pt 1):635-42. [PubMed: 10231856]  [MGI Ref ID J:96055]

Konyukhov BV; Mironova OV. 1979. Interaction of the mutant genes splotch and fidget in mice. Sov Genet 15:407-411.  [MGI Ref ID J:11996]

Kwang SJ; Brugger SM; Lazik A; Merrill AE; Wu LY; Liu YH; Ishii M; Sangiorgi FO; Rauchman M; Sucov HM; Maas RL; Maxson RE Jr. 2002. Msx2 is an immediate downstream effector of Pax3 in the development of the murine cardiac neural crest. Development 129(2):527-38. [PubMed: 11807043]  [MGI Ref ID J:73781]

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Health & husbandry

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Currently there no information available for this strain. This may be due to the supply level of this strain.

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Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.

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Cryorecovery of Strains Needing Progeny Testing. At least two untested males and two untested females (two pairs) will be recovered (eight or more mice is typical). The total number of animals provided, their gender and genotype will vary. Untested animals typically are available to ship between 13 and 16 weeks from the date of your order. If the first recovery attempt is unsuccessful, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation. Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 (from U.S.A., Canada and Puerto Rico only) or 1-207-288-5845 (from any location). The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

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Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

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The Jackson Laboratory's Genotype Promise

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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JAX^® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. In purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.