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Strain Name:

STOCK Dll3pu + Tyrc-ch/+ Oca2p Tyrc-ch/J

Stock Number:

000306

Availability:

Repository-Cryopreserved


Price and Supply Information

General Terms and Conditions

Former Name      STOCK Dll3pu + Tyrc-ch/+ p Tyrc-ch/J    (Changed: 11-FEB-08 )
Genes & Alleles   Dll3;   Dll3pu;   Oca2;   Oca2p;   Tyr;   Tyrc-ch;


Product Information

Strain Details

Type JAX® GEMM® Strain - Mutant Stock
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Radiation Induced Mutation
Type JAX® GEMM® Strain - Spontaneous Mutation
Mating SystemProgeny Tested         (Female x Male)
TJL Breeding Scheme: progeny test; for Dll3pu: heterozygote x heterozygote in repulsion with Oca2p; for Oca2p: heterozygote x heterozygote in repulsion with Dll3pu; for Tyrc-ch: homozygote x homozygote

TJL Breeding Summary: this strain is maintained with Dll3pu and Oca2p in repulsion via a progeny test in which ? + Tyrc-ch/+ ? Tyrc-ch are progeny tested then bred Dll3pu+Tyrc-ch/+ Oca2pTyrc-ch x Dll3pu+Tyrc-ch/+ Oca2pTyrc-ch.

Specieslaboratory mouse
GenerationF14

Appearance
pink-eyed fawn, pudgy
Related Genotype: Dll3pu Oca2p Tyrc-ch/Dll3pu Oca2p Tyrc-ch

pink-eyed fawn, unaffected
Related Genotype: + Oca2p Tyrc-ch/? Oca2p Tyrc-ch

chinchilla, unaffected
Related Genotype: ? + Tyrc-ch/+ ? Tyrc-ch

chinchilla, pudgy
Related Genotype: Dll3pu ? Tyrc-ch/Dll3pu + Tyrc-ch

Important Note
This strain is homozygous for Tyrc-ch and segregating for Dll3pu and Oca2p which are maintained in repulsion.

Strain Development
Pudgy (Dll3pu) arose in the descendants of an x-rayed (101/Rl x C3H/Rl)F1 male from the specific locus experiments at Oak Ridge National Laboratory prior to 1961. It is located on Chromosome 7 linked to pink eyed dilution (Oca2p) and chinchilla (Tyrc-ch). The pudgy stock with Oca2p and Tyrc-ch was imported into The Jackson Laboratory from Dr. L.B. Russell at Oak Ridge in 1961. It was maintained as a close (not inbred) stock by mating Dll3pu + Tyrc-ch/Dll3pu + Tyrc-ch males to + Oca2p Tyrc-ch/+ Oca2p Tyrc-ch females in one generation followed by Dll3pu + Tyrc-ch/+ Oca2p Tyrc-ch matings the next generation until 1983 and then it was sibling mated using the same alternating generations. It was cryopreserved in 1983 using Dll3pu + Tyrc-ch/+ Oca2p Tyrc-ch males x Dll3pu + Tyrc-ch/+ Oca2p Tyrc-ch or untested females at F13.

Mammalian Phenotype Terms assigned by genotype

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

Dll3pu/Dll3pu

        involves: 101/Rl * C3H/Rl
  • lethality-postnatal
  • postnatal lethality (MGI Ref ID J:14975)
    • reduced viability after birth
  • growth/size phenotype
  • decreased body length (MGI Ref ID J:14975)
    • the whole trunk region is shortened
  • embryogenesis phenotype
  • abnormal somite development (MGI Ref ID J:14975)
    • homozygotes exhibit defective segmentation; although the paraxial mesoderm forms somite tissue with an epithelially arranged outer layer, this material either shows only an abortive segmentation into somites or, in the tail, none at all
    • somites are not clearly defined along the tail, are irregular in shape, and the intersegmental fissures are less well defined
    • presomitic mesoderm is thickened and disorganized at E9.5 and segmental borders between epithelial somites are not formed
    • abnormal rostral-caudal patterning of the somites (MGI Ref ID J:48518)
      • the boundaries between rostral-caudal compartments within somites are severely disrupted as indicated by abnormal spatial localization of various gene markers
    • abnormal somite shape (MGI Ref ID J:14975)
      • somites appear irregular in shape
    • abnormal somite size (MGI Ref ID J:48518)
      • somites appear irregular in size
    • delayed somite formation (MGI Ref ID J:14975)
      • in the tail, the paraxial mesoderm is formed into solid somite tissue with some delay and in a less orderly fashion
  • skeleton phenotype
  • abnormal rib morphology (MGI Ref ID J:14975)
    • ribs are irregular, particularly in the caudal half of the thoracic region, where the ribs tend to be bunched together
    • rib bifurcation (MGI Ref ID J:48518)
    • rib fusion (MGI Ref ID J:48518)
      • irregular rib fusions
  • abnormal sclerotome (MGI Ref ID J:14975)
    • sclerotome tissue remains continuous and gives rise to abnormal blastema which then chondrify and ossify
  • abnormal skull morphology (MGI Ref ID J:14975)
    • anomalies in the skull in the immediate vicinity of the foramen magnum
  • abnormal sternebra morphology (MGI Ref ID J:14975)
    • fusions between adjacent sternebrae, often at an angle, are common
  • abnormal vertebrae morphology (MGI Ref ID J:14975)
    • vertebral column consists of a jumble of vertebrae and fragments of vertebrae
    • deformed vertebrae
    • decreased caudal vertebrae number (MGI Ref ID J:14975)
    • vertebral fusion (MGI Ref ID J:14975)
      • highly irregular fusions between vertebrae and fragments of vertebrae
  • kyphosis (MGI Ref ID J:14975)
  • lordosis (MGI Ref ID J:14975)
  • short vertebral column (MGI Ref ID J:14975)
    • shortened all along its length
  • muscle phenotype
  • abnormal dermomyotome development (MGI Ref ID J:14975)
    • segmentation into the dermomyotome is belated
  • nervous system phenotype
  • abnormal dorsal root ganglion morphology (MGI Ref ID J:48518)
    • spinal ganglia are irregularly formed and unevenly spaced
    • fused dorsal root ganglion (MGI Ref ID J:14975)
      • spinal ganglia is an almost continuous mass instead of being separate from each other as in wild type
  • abnormal ependyma morphology (MGI Ref ID J:48518)
    • 3 of 6 adults show unusual unilateral and bilateral cysts in the lateral ventricular ependymal linings
  • abnormal spinal nerve morphology (MGI Ref ID J:48518)
    • spinal nerves are irregularly formed and unevenly spaced
  • limbs/digits/tail phenotype
  • decreased caudal vertebrae number (MGI Ref ID J:14975)
  • short tail (MGI Ref ID J:14975)
    • tail is reduced to a small stub or is all but absent
  • thin tail (MGI Ref ID J:14975)
    • tails are thinner distally and are pointed at the tip at E14
  • behavior/neurological phenotype
  • abnormal sexual interaction (MGI Ref ID J:14975)
    • mutants are poor breeders
  • craniofacial phenotype
  • abnormal skull morphology (MGI Ref ID J:14975)
    • anomalies in the skull in the immediate vicinity of the foramen magnum

Dll3pu/Dll3pu

        involves: 101/Rl * C3H/He * C3H/Rl * C57BL/6
  • growth/size phenotype
  • decreased body length (MGI Ref ID J:75954)
    • truncation of the body
  • limbs/digits/tail phenotype
  • short tail (MGI Ref ID J:75954)
    • tail is short, however it is longer than in Dll3tm1Rbe homozygous embryos
  • skeleton phenotype
  • abnormal skeleton morphology (MGI Ref ID J:75954)
    • at E14.5, defects in the preskeleton are very similar to those of Dll3tm1Rbe homozygous embryos
    • skeletal dysplasia of embryos is less severe than seen in Dll3tm1Rbe homozygous embryos
    • abnormal vertebrae morphology (MGI Ref ID J:75954)
      • misaligned vertebrae
    • rib fusion (MGI Ref ID J:75954)

Gene & Allele Details

Allele Symbol Dll3pu
Allele Name pudgy
Common Name(s) pu;
Strain of Origin(101/Rl x C3H/Rl)F1
Gene Symbol and Name Dll3, delta-like 3 (Drosophila)
Chromosome 7
Gene Common Name(s) SCDO1; pu; pudgy;
General Note The pudgy mutation appeared in descendants of an X-rayed male at the Oak Ridge National Laboratory. (J:14975). It has been suggested that Dll3pu may be a recurrence of stub (sb), a skeletal mutant now extinct (J:245).
Molecular Note Sequencing of Dll3 shows that Dll3pu mutants have a 4 bp deletion in the third exon leading to a frameshift and early truncation of the expected Dll3 product ahead of the conserved DSL domain. [MGI Ref ID J:48518]
 
Allele Symbol Oca2p
Allele Name pink-eyed dilution
Common Name(s) p;
Strain of OriginAsiatic fancy mice
Gene Symbol and Name Oca2, oculocutaneous albinism II
Chromosome 7
Gene Common Name(s) BEY; BEY1; BEY2; BOCA; D15S12; D7H15S12; D7Icr28RN; D7Nic1; DNA segment, Chr 7, Institute for Cancer Research 28RN; DNA segment, Chr 7, Nicholls 1; DNA segment, Chr 7, human D15S12; EYCL; EYCL2; EYCL3; HCL3; P; PED; SHEP1; p; pink-eyed dilution;
General Note

p is a very old mutation carried in many varieties of fancy mice (J:12958). It has been suggested that the original mutation occurred in Japanese wild mice, Mus musculus molossinus (J:19782).

Homozygotes have pink eyes with pigmentation very much reduced but not completely absent in both the retina and choroid. The black pigment of the hair is very much diluted, but the yellow pigment is only slightly affected. Pigment granules are irregular and shred-like in shape. The small amount of pigment they contain is of wild-type color (J:12970, J:12958). The fine structure of the pigment granules was said by Moyer (J:5001) to be disrupted, but Hearing et al. \R(J:5346) found the structure to be normal, with premature termination of the melanizationprocess.

In tissue culture of the eye, the amount of pigment formed can be increased by increasing the concentration of tyrosine. This suggests that p may block the melanin-synthesizing pathway by interference with tyrosine supply (J:12726). The site of gene action is in the melanocytes and not in either the dermis or the epidermis (J:7988).

A presumed p gene has been cloned (J:2206). It was isolated from mouse melanoma and melanocyte libraries and is missing or altered in six independent p mutant alleles (J:2206). By sequence comparison, the human P locus, deletions of which are associated with hypopigmentation, is orthologous to p (J:2206). P maps to Chr 15q, near the Prader--Willi syndrome locus. On the basis of this location, the p mutation has been proposed to provide a mouse model for Prader--Willi syndrome, for Angelman syndrome, for one form of hypomelanosis of Ito (J:3253), and for type II oculocutaneous albinism (J:3600). A small nuclear ribonucleoprotein particle gene Snrpn maps near p and its human ortholog in the homologous Prader--Willi region of human Chromosome 15 (J:3623). Snrpn appears to be a better candidate for the Prader-Willi syndrome ortholog. P is deleted in human type II oculocutaneous albinism, making p a model for this disease (J:3600).

 
Allele Symbol Tyrc-ch
Allele Name chinchilla
Common Name(s) cch; cr;
Strain of Originfancier's stock
Gene Symbol and Name Tyr, tyrosinase
Chromosome 7
Gene Common Name(s) C; OCA1A; OCAIA; SHEP3; albino; c; skc35; skin/coat color 35;
Molecular Note The mutation in the chinchilla allele was found to be a G to A point mutation that results in an amino acid change at position 464 from alanine to threonine. [MGI Ref ID J:19279]

Control Information

  Allele   Control
 Dll3pu  Untyped from the colony
 
  Considerations for Choosing Controls
  Control Pricing Information for JAX® GEMM® Strains

Related Strains

Strains carrying   Oca2p allele
000004   ABP/LeJ
000577   B6 x STOCK a Oca2p Hps5ru2 Ednrbs/J
001059   B6By.Cg-Oca2p/J
000619   FS/EiJ
001618   STOCK Oca2p/Oca2p Prop1df/J
View Strains carrying   Oca2p     (5 strains)

Strains carrying   Tyrc-ch allele
000091   129T1/Sv-Oca2+ Tyrc-ch Dnd1Ter/J
001279   129T1/Sv-Oca2+ Tyrc-ch-Aft/J
000578   B6 x STOCK Tyrc-ch Bmp5se +/+ Myo6sv/J
000619   FS/EiJ
004828   FVB.129P2-Pde6b+ Tyrc-ch/AntJ
000271   SH1/LeJ
View Strains carrying   Tyrc-ch     (6 strains)

Strains carrying other alleles of Dll3
005040   STOCK Tg(Pfkl)224Yg/J-Dll3pu-J/J
View Strains carrying other alleles of Dll3     (1 strain)

View Strains carrying other alleles of Oca2     (18 strains)

View Strains carrying other alleles of Tyr     (40 strains)

Research Applications

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

Dll3pu related

Developmental Biology Research
Neurodevelopmental Defects
Skeletal Defects

Oca2p related

Dermatology Research
Color and White Spotting Defects

Mouse/Human Gene Homologs
albinism, oculocutaneous type II, OCA2

Neurobiology Research
Angelman syndrome

Tyrc-ch related

Dermatology Research
Color and White Spotting Defects

Developmental Biology Research
Neurodevelopmental Defects
Skeletal Defects

Mouse/Human Gene Homologs
albinism, tyrosine negative

References

Additional References

Price and Supply Information

Strain Name: STOCK Dll3pu + Tyrc-ch/+ Oca2p Tyrc-ch/J
Stock Number: 000306

Price Details

IMPORTANT NOTE: Prices are based on shipping destination. The shipping destinations are:

*Pricing for Shipping Destination selected:

        International

Price(s) in US dollars ($)
Cryorecovery Fee $2470.00

Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes Cryorecovery of Strains Needing Progeny Testing.
The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two untested males and two untested females (two pairs) will be recovered, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. However, all pups recovered will be sent.

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 (at least two untested pairs) 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.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice
One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.
This strain is included in the Mouse Mutant Resource collection.
Genomic DNA is available for this strain from the Mouse DNA Resource.

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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.
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