JAX Mice Database - 000306 STOCK Dll3<pu> + Tyr<c-ch>/+ Oca2<p> Tyr<c-ch>/J

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Strain Name:	STOCK Dll3^pu + Tyr^c-ch/+ Oca2^p Tyr^c-ch/J
Stock Number:	000306
Availability:	Repository-Cryopreserved

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General Terms and Conditions

Former Name	STOCK Dll3^pu + Tyr^c-ch/+ p Tyr^c-ch/J (Changed: 11-FEB-08 )
Genes & Alleles	Dll3; Dll3^pu; Oca2; Oca2^p; Tyr; Tyr^c-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 System Progeny Tested (Female x Male)
TJL Breeding Scheme: progeny test; for Dll3^pu: heterozygote x heterozygote in repulsion with Oca2^p; for Oca2^p: heterozygote x heterozygote in repulsion with Dll3^pu; for Tyr^c-ch: homozygote x homozygote
TJL Breeding Summary: this strain is maintained with Dll3^pu and Oca2^p in repulsion via a progeny test in which ? + Tyr^c-ch/+ ? Tyr^c-ch are progeny tested then bred Dll3^pu+Tyr^c-ch/+ Oca2^pTyr^c-ch x Dll3^pu+Tyr^c-ch/+ Oca2^pTyr^c-ch.

Species laboratory mouse

Generation F14

Appearance
pink-eyed fawn, pudgy
Related Genotype: Dll3^pu Oca2^p Tyr^c-ch/Dll3^pu Oca2^p Tyr^c-ch

pink-eyed fawn, unaffected
Related Genotype: + Oca2^p Tyr^c-ch/? Oca2^p Tyr^c-ch

chinchilla, unaffected
Related Genotype: ? + Tyr^c-ch/+ ? Tyr^c-ch

chinchilla, pudgy
Related Genotype: Dll3^pu ? Tyr^c-ch/Dll3^pu + Tyr^c-ch
Important Note
This strain is homozygous for Tyr^c-ch and segregating for Dll3^pu and Oca2^p which are maintained in repulsion.
Strain Development
Pudgy (Dll3^pu) 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 (Oca2^p) and chinchilla (Tyr^c-ch). The pudgy stock with Oca2^p and Tyr^c-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 Dll3^pu + Tyr^c-ch/Dll3^pu + Tyr^c-ch males to + Oca2^p Tyr^c-ch/+ Oca2^p Tyr^c-ch females in one generation followed by Dll3^pu + Tyr^c-ch/+ Oca2^p Tyr^c-ch matings the next generation until 1983 and then it was sibling mated using the same alternating generations. It was cryopreserved in 1983 using Dll3^pu + Tyr^c-ch/+ Oca2^p Tyr^c-ch males x Dll3^pu + Tyr^c-ch/+ Oca2^p Tyr^c-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.
Dll3^pu/Dll3^pu
involves: 101/Rl * C3H/Rl
lethality-postnatal

postnatal lethality (J:14975)

reduced viability after birth

growth/size phenotype

decreased body length (J:14975)

the whole trunk region is shortened

embryogenesis phenotype

abnormal somite development (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 (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 (J:14975)

somites appear irregular in shape

abnormal somite size (J:48518)

somites appear irregular in size

delayed somite formation (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 (J:14975)

ribs are irregular, particularly in the caudal half of the thoracic region, where the ribs tend to be bunched together

rib bifurcation (J:48518)

rib fusion (J:48518)

irregular rib fusions

abnormal sclerotome (J:14975)

sclerotome tissue remains continuous and gives rise to abnormal blastema which then chondrify and ossify

abnormal skull morphology (J:14975)

anomalies in the skull in the immediate vicinity of the foramen magnum

abnormal sternebra morphology (J:14975)

fusions between adjacent sternebrae, often at an angle, are common

abnormal vertebrae morphology (J:14975)

vertebral column consists of a jumble of vertebrae and fragments of vertebrae

deformed vertebrae

decreased caudal vertebrae number (J:14975)

vertebral fusion (J:14975)

highly irregular fusions between vertebrae and fragments of vertebrae

kyphosis (J:14975)

lordosis (J:14975)

short vertebral column (J:14975)

shortened all along its length

muscle phenotype

abnormal dermomyotome development (J:14975)

segmentation into the dermomyotome is belated

nervous system phenotype

abnormal dorsal root ganglion morphology (J:48518)

spinal ganglia are irregularly formed and unevenly spaced

fused dorsal root ganglion (J:14975)

spinal ganglia is an almost continuous mass instead of being separate from each other as in wild type

abnormal ependyma morphology (J:48518)

3 of 6 adults show unusual unilateral and bilateral cysts in the lateral ventricular ependymal linings

abnormal spinal nerve morphology (J:48518)

spinal nerves are irregularly formed and unevenly spaced

limbs/digits/tail phenotype

decreased caudal vertebrae number (J:14975)

short tail (J:14975)

tail is reduced to a small stub or is all but absent

thin tail (J:14975)

tails are thinner distally and are pointed at the tip at E14

behavior/neurological phenotype

abnormal sexual interaction (J:14975)

mutants are poor breeders

craniofacial phenotype

abnormal skull morphology (J:14975)

anomalies in the skull in the immediate vicinity of the foramen magnum

Dll3^pu/Dll3^pu
involves: 101/Rl * C3H/He * C3H/Rl * C57BL/6
growth/size phenotype

decreased body length (J:75954)

truncation of the body

limbs/digits/tail phenotype

short tail (J:75954)

tail is short, however it is longer than in Dll3^tm1Rbe homozygous embryos

skeleton phenotype

abnormal skeleton morphology (J:75954)

at E14.5, defects in the preskeleton are very similar to those of Dll3^tm1Rbe homozygous embryos

skeletal dysplasia of embryos is less severe than seen in Dll3^tm1Rbe homozygous embryos

abnormal vertebrae morphology (J:75954)

misaligned vertebrae

rib fusion (J:75954)

Gene & Allele Details

Allele Symbol		Dll3^pu
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 Dll3^pu may be a recurrence of stub (sb), a skeletal mutant now extinct (J:245).
Molecular Note		Sequencing of Dll3 shows that Dll3^pu 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. [J:48518]

Allele Symbol		Oca2^p
Allele Name		pink-eyed dilution
Common Name(s)		p;
Strain of Origin		Asiatic 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		Tyr^c-ch
Allele Name		chinchilla
Common Name(s)		c^ch; c^r;
Strain of Origin		fancier'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. [J:19279]

Control Information

Allele	Control
Dll3^pu	Untyped from the colony

Considerations for Choosing Controls

Related Strains

Strains carrying Oca2^p allele

000004 ABP/LeJ

000577 B6 x STOCK a Oca2^p Hps5^ru2 Ednrb^s/J

001059 B6By.Cg-Oca2^p/J

000619 FS/EiJ

001618 STOCK Oca2^p/Oca2^p Prop1^df/J

View Strains carrying Oca2^p (5 strains)

Strains carrying Tyr^c-ch allele

000091 129T1/Sv-Oca2⁺ Tyr^c-ch Dnd1^Ter/J

001279 129T1/Sv-Oca2⁺ Tyr^c-ch-Aft/J

000578 B6 x STOCK Tyr^c-ch Bmp5^se +/+ Myo6^sv/J

000619 FS/EiJ

004828 FVB.129P2-Pde6b⁺ Tyr^c-ch/AntJ

000271 SH1/LeJ

View Strains carrying Tyr^c-ch (6 strains)

Strains carrying other alleles of Dll3

005040 STOCK Tg(Pfkl)224Yg/J-Dll3^pu-J/J

View Strains carrying other alleles of Dll3 (1 strain)

Strains carrying other alleles of Oca2

000090 129S1/Sv-Oca2⁺ Tyr⁺ Kitl^Sl-J/J

000091 129T1/Sv-Oca2⁺ Tyr^c-ch Dnd1^Ter/J

001279 129T1/Sv-Oca2⁺ Tyr^c-ch-Aft/J

000822 B6 x 129S1/SvEi Oca2⁺ Tyr⁺-Vsx2^or-J/J

002460 C3H/HeJ-Oca2^p-J Is(7;1)40H/J

000513 C3H/HeJ-Oca2^p-J/J

001136 C57BL/6J-Oca2^p-un+2J/J

001506 C57BL/6J-Oca2^p-un+3J/J

001810 C57BL/6J-Oca2^p-un+4J/J

001513 C57BL/6J-Oca2^p-un+5J/J

001499 C57BL/6J-Oca2^p-un+6J/J

001033 C57BL/6J-Oca2^p-un+J/J

000028 C57BL/6J-Oca2^p-un/J

000494 J.Cg-Oca2⁺ Tyr⁺ Lyst^bg/J

001584 STOCK Oca2^p-J/Oca2^p-bs/J

001585 STOCK Oca2^p-d/Oca2^p-25H/J

000823 STOCK Oca2^p-d/Oca2^p-6H/J

001747 STOCK Oca2^p-d/Oca2^p-cp/J

View Strains carrying other alleles of Oca2 (18 strains)

Strains carrying other alleles of Tyr

000090 129S1/Sv-Oca2⁺ Tyr⁺ Kitl^Sl-J/J

005445 A.B6 Tyr⁺-Cyba^nmf333/J

005012 A.B6 Tyr⁺-Myo5a^d-l31J/J

002565 A.B6-Tyr⁺/J

000409 B10.129P-H1^b Hbb^d Tyr^c Ea7^a/(5M)oSnJ

000418 B10.129P-H1^b Tyr^c Hbb^d/(5M)nSnJ

000432 B10.C-H1^b Hbb^d Tyr^c/(41N)SnJ

000580 B10.D2/nSn-Tyr^c-4J/J

000822 B6 x 129S1/SvEi Oca2⁺ Tyr⁺-Vsx2^or-J/J

000058 B6(Cg)-Tyr^c-2J/J

000383 B6.C-Tyr^c H1^b Hbb^d/ByJ

007484 B6.Cg-Tyr^c-2J Tg(Tyr)3412ARpw Tg(Sry-EGFP)92Ei/EiJ

000035 B6.Cg-Tyr^c-J/J

000104 B6.Cg-Tyr^c-h/J

000054 B6.D2-Tyr^c-p/J

000899 C.B6-Tyr⁺ Hbb^s/J

000339 C3H/HeJ-Tyr^c-9J/J

001294 C3H/HeJ-Tyr^c-a/J

001002 C57BL/10SnJ-Tyr^c-11J/J

001006 CBA/J-Tyr^c-10J/J

000657 CE/J

007483 FVB.Cg-Tg(Tyr)3412ARpw Tg(Sry-EGFP)92Ei/EiJ

000494 J.Cg-Oca2⁺ Tyr⁺ Lyst^bg/J

002281 NFS.C58-Tyr⁺/J

004304 NOD.CBALs-Tyr⁺/LtJ

005115 NOD.FVB-Tg(INS-MT2A,Tyr)1Pne/PneJ

005114 NOD.FVB-Tg(Ins1-Cat,Tyr)25Pne/PneJ

001759 STOCK A Tyr^c Sha/J

000006 STOCK Hk Tyr^c/J

000206 STOCK a/a Tyr^c-h/J

View Strains carrying other alleles of Tyr (30 strains)

Research Applications

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

Dll3^pu related

Developmental Biology Research
Neurodevelopmental Defects
Skeletal Defects

Oca2^p related

Dermatology Research
Color and White Spotting Defects

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

Neurobiology Research
Angelman syndrome

Tyr^c-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 Dll3^pu* + Tyr^c-ch/+ Oca2^p Tyr^c-ch/J**
Stock Number:	000306

Price Details

IMPORTANT NOTE: Prices are based on shipping destination. To view prices, select your shipping destination.

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Supply Details

Standard Supply	Repository-Cryopreserved. Must Be Recovered. Please refer to the 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.
Licensing	See General Terms and Conditions below
Control Information	View Control Information in Strain Details.

General Terms and Conditions

View JAX^® Mice & Services Conditions of Use.

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.

Ordering and Purchasing Information

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Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
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Go to JAX^® Mice Query Form

000004	ABP/LeJ
000577	B6 x STOCK a Oca2^p Hps5^ru2 Ednrb^s/J
001059	B6By.Cg-Oca2^p/J
000619	FS/EiJ
001618	STOCK Oca2^p/Oca2^p Prop1^df/J

000091	129T1/Sv-Oca2⁺ Tyr^c-ch Dnd1^Ter/J
001279	129T1/Sv-Oca2⁺ Tyr^c-ch-Aft/J
000578	B6 x STOCK Tyr^c-ch Bmp5^se +/+ Myo6^sv/J
000619	FS/EiJ
004828	FVB.129P2-Pde6b⁺ Tyr^c-ch/AntJ
000271	SH1/LeJ

000090	129S1/Sv-Oca2⁺ Tyr⁺ Kitl^Sl-J/J
000091	129T1/Sv-Oca2⁺ Tyr^c-ch Dnd1^Ter/J
001279	129T1/Sv-Oca2⁺ Tyr^c-ch-Aft/J
000822	B6 x 129S1/SvEi Oca2⁺ Tyr⁺-Vsx2^or-J/J
002460	C3H/HeJ-Oca2^p-J Is(7;1)40H/J
000513	C3H/HeJ-Oca2^p-J/J
001136	C57BL/6J-Oca2^p-un+2J/J
001506	C57BL/6J-Oca2^p-un+3J/J
001810	C57BL/6J-Oca2^p-un+4J/J
001513	C57BL/6J-Oca2^p-un+5J/J
001499	C57BL/6J-Oca2^p-un+6J/J
001033	C57BL/6J-Oca2^p-un+J/J
000028	C57BL/6J-Oca2^p-un/J
000494	J.Cg-Oca2⁺ Tyr⁺ Lyst^bg/J
001584	STOCK Oca2^p-J/Oca2^p-bs/J
001585	STOCK Oca2^p-d/Oca2^p-25H/J
000823	STOCK Oca2^p-d/Oca2^p-6H/J
001747	STOCK Oca2^p-d/Oca2^p-cp/J

000090	129S1/Sv-Oca2⁺ Tyr⁺ Kitl^Sl-J/J
005445	A.B6 Tyr⁺-Cyba^nmf333/J
005012	A.B6 Tyr⁺-Myo5a^d-l31J/J
002565	A.B6-Tyr⁺/J
000409	B10.129P-H1^b Hbb^d Tyr^c Ea7^a/(5M)oSnJ
000418	B10.129P-H1^b Tyr^c Hbb^d/(5M)nSnJ
000432	B10.C-H1^b Hbb^d Tyr^c/(41N)SnJ
000580	B10.D2/nSn-Tyr^c-4J/J
000822	B6 x 129S1/SvEi Oca2⁺ Tyr⁺-Vsx2^or-J/J
000058	B6(Cg)-Tyr^c-2J/J
000383	B6.C-Tyr^c H1^b Hbb^d/ByJ
007484	B6.Cg-Tyr^c-2J Tg(Tyr)3412ARpw Tg(Sry-EGFP)92Ei/EiJ
000035	B6.Cg-Tyr^c-J/J
000104	B6.Cg-Tyr^c-h/J
000054	B6.D2-Tyr^c-p/J
000899	C.B6-Tyr⁺ Hbb^s/J
000339	C3H/HeJ-Tyr^c-9J/J
001294	C3H/HeJ-Tyr^c-a/J
001002	C57BL/10SnJ-Tyr^c-11J/J
001006	CBA/J-Tyr^c-10J/J
000657	CE/J
007483	FVB.Cg-Tg(Tyr)3412ARpw Tg(Sry-EGFP)92Ei/EiJ
000494	J.Cg-Oca2⁺ Tyr⁺ Lyst^bg/J
002281	NFS.C58-Tyr⁺/J
004304	NOD.CBALs-Tyr⁺/LtJ
005115	NOD.FVB-Tg(INS-MT2A,Tyr)1Pne/PneJ
005114	NOD.FVB-Tg(Ins1-Cat,Tyr)25Pne/PneJ
001759	STOCK A Tyr^c Sha/J
000006	STOCK Hk Tyr^c/J
000206	STOCK a/a Tyr^c-h/J

Strain Name:

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

Stock Number:

000306

Availability:

Repository-Cryopreserved

General Terms and Conditions

Product Information

Strain Details

Dll3pu/Dll3pu

Dll3pu/Dll3pu

Gene & Allele Details

Control Information

Related Strains

Research Applications

References

Price and Supply Information

Price Details

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Supply Details

General Terms and Conditions

The Jackson Laboratory's Genotype Promise

STOCK Dll3^pu + Tyr^c-ch/+ Oca2^p Tyr^c-ch/J

Dll3^pu/Dll3^pu

Dll3^pu/Dll3^pu