Strain Name:

STOCK Pax3Sp Mlphln/J

Stock Number:

002902

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Availability:

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Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Former Names STOCK Pax3Sp ln    (Changed: 15-DEC-04 )
Type Mutant Stock; Spontaneous Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Specieslaboratory mouse

Related Strains

Strains carrying   Mlphln allele
000112   B6.Cg-Sgk3fz H54 Mlphln/+ H54 +/J
000668   C57L/J
000643   DW/J Mlphln Pou1f1dw/J
000275   V/LeJ
View Strains carrying   Mlphln     (4 strains)

Strains carrying   Pax3Sp allele
000311   B6.Cg-Pax3Sp N/J
View Strains carrying   Pax3Sp     (1 strain)

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 Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Craniofacial-Deafness-Hand Syndrome; CDHS   (PAX3)
Griscelli Syndrome, Type 3; GS3   (MLPH)
Rhabdomyosarcoma 2; RMS2   (PAX3)
Waardenburg Syndrome, Type 1; WS1   (PAX3)
Waardenburg Syndrome, Type 3; WS3   (PAX3)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.

Mlphln/Mlphln

        C57BR
  • pigmentation phenotype
  • diluted coat color
    • melanin synthesis is normal but melanosomes transport is impaired resulting in a "leaden" coat color   (MGI Ref ID J:17162)
  • integument phenotype
  • diluted coat color
    • melanin synthesis is normal but melanosomes transport is impaired resulting in a "leaden" coat color   (MGI Ref ID J:17162)

Mlphln/Mlphln

        B6.Cg-Sgk3fz H54 Mlphln/+ H54 +/J
  • pigmentation phenotype
  • *normal* pigmentation phenotype
    • mice exhibit wild-type iris pigmentation   (MGI Ref ID J:141035)

Pax3Sp/Pax3+

        C57BL-Pax3Sp
  • pigmentation phenotype
  • white spotting
    • occasional spotting on the back and increased spotting on the tail compared to wild-type mice   (MGI Ref ID J:12957)
    • the feet are usually white   (MGI Ref ID J:12957)
    • belly spot   (MGI Ref ID J:12957)
  • integument phenotype
  • white spotting
    • occasional spotting on the back and increased spotting on the tail compared to wild-type mice   (MGI Ref ID J:12957)
    • the feet are usually white   (MGI Ref ID J:12957)
    • belly spot   (MGI Ref ID J:12957)

Pax3Sp/Pax3+

        involves: C3HeB * C57BL * C57BL/6J * SWV
  • nervous system phenotype
  • spina bifida
    • increased incidence of spina bifida induced by in utero exposure to 50 mg/kg trans-retinoic acid compared to treated wild-type littermates   (MGI Ref ID J:114747)
  • embryogenesis phenotype
  • spina bifida
    • increased incidence of spina bifida induced by in utero exposure to 50 mg/kg trans-retinoic acid compared to treated wild-type littermates   (MGI Ref ID J:114747)

Pax3Sp/Pax3+

        involves: C57BL * C57BL/6J * CBA
  • hearing/vestibular/ear phenotype
  • *normal* hearing/vestibular/ear phenotype
    • auditory function and ear morphology are similar to wild type mice auditory function and ear morphology are similar to wild-type mice   (MGI Ref ID J:2179)

Pax3Sp/Pax3Sp

        C57BL-Pax3Sp
  • mortality/aging
  • complete lethality throughout fetal growth and development
    • die around E14   (MGI Ref ID J:12957)
  • nervous system phenotype
  • abnormal brain ventricle morphology
    • at E10 or later, the lumen of the brain is highly distorted and partially collapsed or obliterated by the excessive overgrowth of neural tissue   (MGI Ref ID J:13016)
    • the lumen in the region of the myelencephalon and rhombencephalon are most sevely affected   (MGI Ref ID J:13016)
  • abnormal dorsal root ganglion morphology
    • 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   (MGI Ref ID J:13016)
    • the lumbo-sacral region spinal ganglia are usually absent   (MGI Ref ID J:13016)
  • abnormal midbrain development
    • the lumen in the mesencephalic region is greatly reduced and obscured by neural tissue   (MGI Ref ID J:13016)
    • at E10 and E11, mesencephalic ventricular cells display increased generation time, increased mitotic index, and prolonged mitosis, S phase, and G1   (MGI Ref ID J:5443)
  • abnormal neural tube morphology/development
    • overgrowth of neural tissue in the region of the open neural tube is variable and becomes more pronounced with age   (MGI Ref ID J:13016)
    • neural overgrowth occurs laterad from the mid-dorsal line of the neural folds   (MGI Ref ID J:13016)
    • 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   (MGI Ref ID J:6190)
    • open neural tube
      • at E9.5, neural folds are open in the hindlimb region with aggregation of neural tissue on both sides of the dorsal midline   (MGI Ref ID J:13016)
      • 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   (MGI Ref ID J:13016)
      • the extent of the area of open neural tube tends to increase in proportion to growth of the embryo   (MGI Ref ID J:13016)
      • 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   (MGI Ref ID J:13016)
      • open neural folds in the hindbrain region   (MGI Ref ID J:5443)
      • spina bifida   (MGI Ref ID J:12957)
  • small embryonic telencephalon
    • vesicles appear as a network of small channels   (MGI Ref ID J:13016)
  • limbs/digits/tail phenotype
  • abnormal tail morphology
    • distorted shape correlated to degree of rachischisis and neural overgrowth   (MGI Ref ID J:13016)
    • hematomas are frequently found in regions of tail curvature   (MGI Ref ID J:13016)
    • kinked tail   (MGI Ref ID J:12957)
  • pigmentation phenotype
  • absent coat pigmentation
    • embryonic tissue explants allowed to develop until hair is formed display well developed hairs that are devoid of pigment   (MGI Ref ID J:13016)
  • absent skin pigmentation
    • embryonic tissue explants allowed to develop until the time when pigment would normally form are devoid of pigment   (MGI Ref ID J:13016)
  • cellular phenotype
  • increased mitotic index
    • at E10 and 11, mesencephalic ventricular cells have increased mitotic index compared to wild-type   (MGI Ref ID J:13016)
  • embryogenesis phenotype
  • abnormal neural tube morphology/development
    • overgrowth of neural tissue in the region of the open neural tube is variable and becomes more pronounced with age   (MGI Ref ID J:13016)
    • neural overgrowth occurs laterad from the mid-dorsal line of the neural folds   (MGI Ref ID J:13016)
    • 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   (MGI Ref ID J:6190)
    • open neural tube
      • at E9.5, neural folds are open in the hindlimb region with aggregation of neural tissue on both sides of the dorsal midline   (MGI Ref ID J:13016)
      • 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   (MGI Ref ID J:13016)
      • the extent of the area of open neural tube tends to increase in proportion to growth of the embryo   (MGI Ref ID J:13016)
      • 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   (MGI Ref ID J:13016)
      • open neural folds in the hindbrain region   (MGI Ref ID J:5443)
      • spina bifida   (MGI Ref ID J:12957)
  • integument phenotype
  • absent coat pigmentation
    • embryonic tissue explants allowed to develop until hair is formed display well developed hairs that are devoid of pigment   (MGI Ref ID J:13016)
  • absent skin pigmentation
    • embryonic tissue explants allowed to develop until the time when pigment would normally form are devoid of pigment   (MGI Ref ID J:13016)

Pax3Sp/Pax3Sp

        involves: C57BL
  • mortality/aging
  • complete embryonic lethality during organogenesis
    • mice die earlier compared to homozygotes on a congenic C57BR background   (MGI Ref ID J:11996)
    • die around E13-E14   (MGI Ref ID J:11996)
  • muscle phenotype
  • abnormal muscle precursor cell migration
    • 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   (MGI Ref ID J:32016)
  • abnormal myogenesis
    • lack myogenic cells in the forming limb buds and hypoglossal cord at E11.5   (MGI Ref ID J:112275)
    • at E10.5 Pax3 expressing cells are absent from the forelimb and hindlimb buds   (MGI Ref ID J:18227)
    • 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   (MGI Ref ID J:18227)
    • limb buds from E11 embryos cultured for 4 days fail to generate any cells expressing early myogenic markers (desmin and sarcomeric myosin)   (MGI Ref ID J:32016)
    • however, cells from somites grafted into chick limbs are able to undergo myogenic differentiation   (MGI Ref ID J:32016)
    • abnormal dermomyotome development
      • foreshortening of the epaxial domain and complete loss of the hypaxial domain of the dermomyotome at E10.5   (MGI Ref ID J:112275)
      • 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   (MGI Ref ID J:32016)
  • nervous system phenotype
  • open neural tube
    • 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   (MGI Ref ID J:114748)
    • 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   (MGI Ref ID J:110617)
  • hearing/vestibular/ear phenotype
  • abnormal bony labyrinth
    • 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   (MGI Ref ID J:114748)
  • abnormal endolymphatic duct morphology
    • at E10, the origin of endolymphatic duct is shifted backwards and upwards and the duct is shorter and conical in shape   (MGI Ref ID J:114748)
    • at E11 the duct extends backwards and outwards rather than vertically upwards as in wild-type mice   (MGI Ref ID J:114748)
    • short endolymphatic duct
      • at E10, the endolymphatic duct is shorter than normal   (MGI Ref ID J:114748)
  • abnormal otic vesicle development
    • in mice where the neural tube defect extends to the cranial region   (MGI Ref ID J:114748)
  • abnormal semicircular canal morphology
    • present but abnormally located in terms of their planes, point of origin, and relationship to other structures in the labyrinth   (MGI Ref ID J:114748)
  • abnormal utricle morphology
    • difficult to distinguish and highly abnormal   (MGI Ref ID J:114748)
  • abnormal vestibular saccule morphology
    • difficult to distinguish and highly abnormal   (MGI Ref ID J:114748)
  • decreased cochlear coiling
    • at E12 cochlear coiling is poor   (MGI Ref ID J:114748)
  • embryogenesis phenotype
  • open neural tube
    • 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   (MGI Ref ID J:114748)
    • 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   (MGI Ref ID J:110617)
  • cellular phenotype
  • abnormal muscle precursor cell migration
    • 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   (MGI Ref ID J:32016)

Pax3Sp/Pax3Sp

        BR.B-Pax3Sp
  • mortality/aging
  • complete perinatal lethality
    • mice die later compared to mice on a mixed genetic background that includes C57BL   (MGI Ref ID J:11996)
    • die around E18-E19   (MGI Ref ID J:11996)
  • nervous system phenotype
  • spina bifida cystica
    • spina bifida aperta in the lumbosacral area   (MGI Ref ID J:11996)
  • embryogenesis phenotype
  • spina bifida cystica
    • spina bifida aperta in the lumbosacral area   (MGI Ref ID J:11996)

Pax3Sp/Pax3Sp

        involves: 129S2/SvPas * C57BL * C57BL/6J * FVB
  • nervous system phenotype
  • increased embryonic neuroepithelium apoptosis
    • many apoptotic neuroepithelial cells seen at the site of the neural tube defect   (MGI Ref ID J:75569)
  • open neural tube
    • seen in all mice   (MGI Ref ID J:75569)
    • treatment with pifithrin-alpha from E8.5 to E9.5 prevented neural tube defects in 55% of embryos   (MGI Ref ID J:75569)
  • embryogenesis phenotype
  • open neural tube
    • seen in all mice   (MGI Ref ID J:75569)
    • treatment with pifithrin-alpha from E8.5 to E9.5 prevented neural tube defects in 55% of embryos   (MGI Ref ID J:75569)

The following phenotype relates to a compound genotype created using this strain.
Contact JAX® Services jaxservices@jax.org for customized breeding options.

a/a Mlphln/Mlphln

        involves: C57BL/J * C57BR
  • pigmentation phenotype
  • abnormal choroid melanin granule morphology
    • granules tend to clump in the choroid but not in the retina   (MGI Ref ID J:5346)
  • abnormal hair follicle melanin granule distribution
    • mice have clumped granules in the hair and skin   (MGI Ref ID J:5346)
  • vision/eye phenotype
  • abnormal choroid melanin granule morphology
    • granules tend to clump in the choroid but not in the retina   (MGI Ref ID J:5346)
  • integument phenotype
  • abnormal hair follicle melanin granule distribution
    • mice have clumped granules in the hair and skin   (MGI Ref ID J:5346)

a/a Mlphln/Mlphln Tyrp1b/Tyrp1b

        C57L/J
  • pigmentation phenotype
  • abnormal coat/hair pigmentation   (MGI Ref ID J:5095)
    • diluted coat color
      • due to clumping of pigment   (MGI Ref ID J:5095)
  • abnormal melanocyte morphology
    • results in clumping rather than even distribution of pigment during hair development   (MGI Ref ID J:5095)
  • integument phenotype
  • abnormal coat/hair pigmentation   (MGI Ref ID J:5095)
    • diluted coat color
      • due to clumping of pigment   (MGI Ref ID J:5095)
View Research Applications

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

Mlphln related

Dermatology Research
Color and White Spotting Defects

Pax3Sp related

Developmental Biology Research
Neural Crest Defects
Neural Tube Defects

Neurobiology Research
Neural Tube Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Mlphln
Allele Name leaden
Allele Type Spontaneous
Common Name(s) ln;
Strain of OriginC57BR
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;
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 OriginC57BL
Gene Symbol and Name Pax3, paired box 3
Chromosome 1
Gene Common Name(s) CDHS; HUP2; Pax-3; Sp; WS1; WS3; 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


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Additional References

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: 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]

Singh RK; Mizuno K; Wasmeier C; Wavre-Shapton ST; Recchi C; Catz SD; Futter C; Tolmachova T; Hume AN; Seabra MC. 2013. Distinct and opposing roles for Rab27a/Mlph/MyoVa and Rab27b/Munc13-4 in mast cell secretion. FEBS J 280(3):892-903. [PubMed: 23281710]  [MGI Ref ID J:211540]

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]

Pax3Sp 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: 2246770]  [MGI Ref ID J:200892]

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]

Barlow AJ; Dixon J; Dixon M; Trainor PA. 2013. Tcof1 acts as a modifier of Pax3 during enteric nervous system development and in the pathogenesis of colonic aganglionosis. Hum Mol Genet 22(6):1206-17. [PubMed: 23283078]  [MGI Ref ID J:193269]

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]

Bonnin MA; Laclef C; Blaise R; Eloy-Trinquet S; Relaix F; Maire P; Duprez D. 2005. Six1 is not involved in limb tendon development, but is expressed in limb connective tissue under Shh regulation. Mech Dev 122(4):573-85. [PubMed: 15804569]  [MGI Ref ID J:98304]

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]

Cabrera RM; Finnell RH; Zhu H; Shaw GM; Wlodarczyk BJ. 2012. Transcriptional analyses of two mouse models of spina bifida. Birth Defects Res A Clin Mol Teratol 94(10):782-9. [PubMed: 23024056]  [MGI Ref ID J:190946]

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]

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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]

Lakkis MM; Golden JA; O'Shea KS; Epstein JA. 1999. Neurofibromin deficiency in mice causes exencephaly and is a modifier for Splotch neural tube defects. Dev Biol 212(1):80-92. [PubMed: 10419687]  [MGI Ref ID J:56680]

Li D; Pickell L; Liu Y; Rozen R. 2006. Impact of methylenetetrahydrofolate reductase deficiency and low dietary folate on the development of neural tube defects in splotch mice. Birth Defects Res A Clin Mol Teratol 76(1):55-9. [PubMed: 16397891]  [MGI Ref ID J:112763]

Li J; Liu KC; Jin F; Lu MM; Epstein JA. 1999. Transgenic rescue of congenital heart disease and spina bifida in Splotch mice. Development 126(11):2495-503. [PubMed: 10226008]  [MGI Ref ID J:52760]

Machado AF; Zimmerman EF; Hovland DN Jr; Weiss R; Collins MD. 2001. Diabetic embryopathy in C57BL/6J mice. Altered fetal sex ratio and impact of the splotch allele. Diabetes 50(5):1193-9. [PubMed: 11334426]  [MGI Ref ID J:69040]

Martin LJ; Machado AF; Loza MA; Mao GE; Lee GS; Hovland DN Jr; Cantor RM; Collins MD. 2003. Effect of arsenite, maternal age, and embryonic sex on spina bifida, exencephaly, and resorption rates in the splotch mouse. Birth Defects Res Part A Clin Mol Teratol 67(4):231-9. [PubMed: 12854658]  [MGI Ref ID J:85062]

Mennerich D; Schafer K; Braun T. 1998. Pax-3 is necessary but not sufficient for lbx1 expression in myogenic precursor cells of the limb. Mech Dev 73(2):147-58. [PubMed: 9622616]  [MGI Ref ID J:48130]

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Moase CE; Trasler DG. 1987. Retinoic acid-induced selective mortality of splotch-delayed mouse neural tube defect mutants. Teratology 36(3):335-43. [PubMed: 3424222]  [MGI Ref ID J:70477]

Moase CE; Trasler DG. 1989. Spinal ganglia reduction in the splotch-delayed mouse neural tube defect mutant. Teratology 40(1):67-75. [PubMed: 2763211]  [MGI Ref ID J:70476]

Morris GL; O'Shea KS. 1983. Anomalies of neuroepithelial cell associations in the Splotch mutant embryo. Brain Res 285(3):408-10. [PubMed: 6627032]  [MGI Ref ID J:70478]

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

Nakazaki H; Reddy AC; Mania-Farnell BL; Shen YW; Ichi S; McCabe C; George D; McLone DG; Tomita T; Mayanil CS. 2008. Key basic helix-loop-helix transcription factor genes Hes1 and Ngn2 are regulated by Pax3 during mouse embryonic development. Dev Biol 316(2):510-23. [PubMed: 18308300]  [MGI Ref ID J:135651]

Nakazaki H; Shen YW; Yun B; Reddy A; Khanna V; Mania-Farnell BM; Ichi S; Mclone DG Tomita T; Mayanil SK. 2009. Transcriptional regulation by Pax3 and TGFbeta2 signaling: a potential gene regulatory network in neural crest development Int J Biol 53:69-70.  [MGI Ref ID J:142494]

Neale SA; Trasler DG. 1994. Early sialylation on N-CAM in splotch neural tube defect mouse embryos. Teratology 50(2):118-24. [PubMed: 7801299]  [MGI Ref ID J:19959]

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Niro C; Demignon J; Vincent S; Liu Y; Giordani J; Sgarioto N; Favier M; Guillet-Deniau I; Blais A; Maire P. 2010. Six1 and Six4 gene expression is necessary to activate the fast-type muscle gene program in the mouse primary myotome. Dev Biol 338(2):168-82. [PubMed: 19962975]  [MGI Ref ID J:156719]

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Pani L; Horal M; Loeken MR. 2002. Rescue of neural tube defects in Pax-3-deficient embryos by p53 loss of function: implications for Pax-3- dependent development and tumorigenesis. Genes Dev 16(6):676-80. [PubMed: 11914272]  [MGI Ref ID J:75569]

Phelan SA; Ito M; Loeken MR. 1997. Neural tube defects in embryos of diabetic mice: role of the Pax-3 gene and apoptosis. Diabetes 46(7):1189-97. [PubMed: 9200655]  [MGI Ref ID J:41232]

Relaix F; Polimeni M; Rocancourt D; Ponzetto C; Schafer BW; Buckingham M. 2003. The transcriptional activator PAX3-FKHR rescues the defects of Pax3 mutant mice but induces a myogenic gain-of-function phenotype with ligand-independent activation of Met signaling in vivo. Genes Dev 17(23):2950-65. [PubMed: 14665670]  [MGI Ref ID J:86911]

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Schubert FR; Tremblay P; Mansouri A; Faisst AM; Kammandel B; Lumsden A; Gruss P; Dietrich S. 2001. Early mesodermal phenotypes in splotch suggest a role for Pax3 in the formation of epithelial somites. Dev Dyn 222(3):506-21. [PubMed: 11747084]  [MGI Ref ID J:72525]

Seo KW. 2007. Dmrt2 and Pax3 double-knockout mice show severe defects in embryonic myogenesis. Comp Med 57(5):460-8. [PubMed: 17974128]  [MGI Ref ID J:142168]

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Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

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Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3300.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • 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 10 and 14 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 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).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $4290.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • 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 10 and 14 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 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).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

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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.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

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. Unless prohibited by law, 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.


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