JAX Mice Database - 001618 STOCK Oca2<p>/Oca2<p> Prop1<df>/J

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Strain Name:	STOCK Oca2^p/Oca2^p Prop1^df/J
Stock Number:	001618
Availability:	Repository- Live

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General Terms and Conditions

Former Name	STOCK p/p Prop1^df/J (Changed: 11-FEB-08 )
Genes & Alleles	Oca2; Oca2^p; Prop1; Prop1^df;

Product Information

Strain Details

Type JAX^® GEMM^® Strain - Mutant Stock

Additional information on JAX^® GEMM^® Strains.

Type JAX^® GEMM^® Strain - Spontaneous Mutation

Mating System Progeny Tested (Female x Male)
TJL Breeding Scheme: progeny test then heterozygote x heterozygote
TJL Breeding Summary: +/? x +/? progeny test then heterozygote x heterozygote.

Species laboratory mouse

Generation F53 (14-DEC-07)

Appearance
pink-eyed fawn, small body size
Related Genotype: Oca2^p/Oca2^p Prop1^df/Prop1^df

pink-eyed fawn, normal size
Related Genotype: Oca2^p/Oca2^p Prop1^df/+ or Oca2^p/Oca2^p +/?
Strain Description
Mice homozygous for the Ames dwarf spontaneous mutation (Prop1^df) resemble mice homozygous for the Snell's dwarf mutation (Pit1^dw). Homozygous Ames dwarf mutant mice show growth retardation after the first postnatal week, and weight at 2 months is only about one-half normal. Females and most males are sterile. There is no detectable growth hormone or prolactin. Ames dwarf mice have a secondary immune deficiency presumably resulting from the lack of growth hormone.

Related Disease (OMIM) Terms

Pituitary Dwarfism III

Mammalian Phenotype Terms assigned by genotype

Prop1^df/Prop1^df
STOCK Prop1^df
endocrine/exocrine gland phenotype

*normal* endocrine/exocrine gland phenotype (J:12169)

testes nearly normal

absent corpus luteum (J:12169)

absent ovarian follicles (J:12169)

large follicles absent

absent somatotrophs (J:7211)

pituitary gland lacked identifiable somatotropes

decreased thyrotroph cell number (J:12169)

reduced numbers of thyrotropic hormone producing cells

small adenohypophysis (J:12169)

anterior pituitary reduced in size

small ovary (J:12169)

small thyroid gland (J:12169)

follicles were small and some tissue was not organized into follicles

growth/size phenotype

dwarfism (J:36967)

daily i.p. injections of bovine growth hormone for ~ 6 weeks produced animals of nearly normal size

homeostasis/metabolism phenotype

decreased circulating growth hormone level (J:6340)

deficient

decreased circulating prolactin level (J:5900)

deficient

decreased circulating thyroid-stimulating hormone level (J:6340)

deficient

decreased follicle stimulating hormone level (J:5900)

males, in the pituitary

decreased circulating follicle stimulating hormone level (J:5900)

males

treatment with ovine prolactin or prolactin producing grafts, resulted in increased FSH levels

decreased luteinizing hormone level (J:5900)

males, in the pituitary

reproductive system phenotype

absent corpus luteum (J:12169)

absent ovarian follicles (J:12169)

large follicles absent

female infertility (J:36967)

still infertile after treatment with bovine growth hormone

male infertility (J:36967)

became fertile after treatment with bovine growth hormone

small ovary (J:12169)

nervous system phenotype

absent somatotrophs (J:7211)

pituitary gland lacked identifiable somatotropes

decreased thyrotroph cell number (J:12169)

reduced numbers of thyrotropic hormone producing cells

small adenohypophysis (J:12169)

anterior pituitary reduced in size

The following phenotype information may relate to a genetic background differing from this JAX^® Mice strain.
Prop1^df/Prop1^df
involves: C57BL/6J
life span-post-weaning/aging

premature death (J:94409)

a fraction of pups with a higher contribution of the C57BL/6J background display lethargy and die precipitously between weaning and adulthood

endocrine/exocrine gland phenotype

*normal* endocrine/exocrine gland phenotype (J:94409)

mutants crossed onto the C57BL/6J background have normal levels of gonadotropes

Gene & Allele Details

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		Prop1^df
Allele Name		Ames dwarf
Common Name(s)		DW; Prop1^-; df;
Strain of Origin		Goodale large mice x pink-eyed stock
Gene Symbol and Name		Prop1, paired like homeodomain factor 1
Chromosome		11
Gene Common Name(s)		Ames dwarf; Prop-1; df; prophet of Pit-1; prophet of Pit1;
General Note		The Ames dwarf mutation arose spontaneously in descendants of a cross of the Goodale large mouse stock to a pink-eyed stock.
Molecular Note		A T-to-C transition results in a serine to proline substitution within the alpha1 helix of the homeodomain (amino acid 83). [J:36967]

Control Information

Allele	Control
Prop1^df	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

000306 STOCK Dll3^pu + Tyr^c-ch/+ Oca2^p Tyr^c-ch/J

View Strains carrying Oca2^p (5 strains)

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)

Additional Web Information

JAX Notes, Fall 2001; 483. Extended Life Span in Mice with Dwarfing Mutations.

Animal Health Reports

Room Number FGB29

Research Applications

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

Oca2^p related

Dermatology Research
Color and White Spotting Defects

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

Neurobiology Research
Angelman syndrome

Prop1^df related

Developmental Biology Research
Growth Defects

Endocrine Deficiency Research
Hypothalamus/Pituitary Defects

Immunology and Inflammation Research
Immunodeficiency Associated with Other Defects

Mouse/Human Gene Homologs
pituitary hormone deficiency

References

Additional References

Price and Supply Information

Strain Name:	*STOCK Oca2^p/Oca2^p Prop1^df/J*
Stock Number:	001618

Price Details

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Supply Details

Standard Supply	Repository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement.
Supply Notes	Usually shipped between four and eight weeks of age. 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.

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Contact Information
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Tel: 800.422.6423 or 207.288.5845
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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
000306	STOCK Dll3^pu + Tyr^c-ch/+ Oca2^p Tyr^c-ch/J

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

Strain Name:

STOCK Oca2p/Oca2p Prop1df/J

Stock Number:

001618

Availability:

Repository- Live

General Terms and Conditions

Product Information

Strain Details

Prop1df/Prop1df

Prop1df/Prop1df

Gene & Allele Details

Control Information

Related Strains

Additional Web Information

Animal Health Reports

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 Oca2^p/Oca2^p Prop1^df/J

Prop1^df/Prop1^df

Prop1^df/Prop1^df