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Strain Name:

STOCK Oca2p/Oca2p Prop1df/J

Stock Number:

001618

Availability:

Repository- Live

Price and Supply Information

General Terms and Conditions

Former Name      STOCK p/p Prop1df/J    (Changed: 11-FEB-08 )
Genes & Alleles   Oca2;   Oca2p;   Prop1;   Prop1df;

Product Information

Strain Details

Type JAX® GEMM® Strain - Mutant Stock
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Spontaneous Mutation
Mating SystemProgeny Tested         (Female x Male)
TJL Breeding Scheme: progeny test then heterozygote x heterozygote
TJL Breeding Summary: +/? x +/? progeny test then heterozygote x heterozygote.
Specieslaboratory mouse
GenerationF53 (14-DEC-07)

Appearance
pink-eyed fawn, small body size
Related Genotype: Oca2p/Oca2p Prop1df/Prop1df

pink-eyed fawn, normal size
Related Genotype: Oca2p/Oca2p Prop1df/+ or Oca2p/Oca2p +/?

Strain Description
Mice homozygous for the Ames dwarf spontaneous mutation (Prop1df) resemble mice homozygous for the Snell's dwarf mutation (Pit1dw). 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

Prop1df/Prop1df

        STOCK Prop1df
  • endocrine/exocrine gland phenotype
  • *normal* endocrine/exocrine gland phenotype (MGI Ref ID J:12169)
    • testes nearly normal
    • absent corpus luteum (MGI Ref ID J:12169)
    • absent ovarian follicles (MGI Ref ID J:12169)
      • large follicles absent
    • absent somatotrophs (MGI Ref ID J:7211)
      • pituitary gland lacked identifiable somatotropes
    • decreased thyrotroph cell number (MGI Ref ID J:12169)
      • reduced numbers of thyrotropic hormone producing cells
    • small adenohypophysis (MGI Ref ID J:12169)
      • anterior pituitary reduced in size
    • small ovary (MGI Ref ID J:12169)
    • small thyroid gland (MGI Ref ID J:12169)
      • follicles were small and some tissue was not organized into follicles
  • growth/size phenotype
  • dwarfism (MGI Ref ID 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 (MGI Ref ID J:6340)
    • deficient
  • decreased circulating prolactin level (MGI Ref ID J:5900)
    • deficient
  • decreased circulating thyroid-stimulating hormone level (MGI Ref ID J:6340)
    • deficient
  • decreased follicle stimulating hormone level (MGI Ref ID J:5900)
    • males, in the pituitary
    • decreased circulating follicle stimulating hormone level (MGI Ref ID J:5900)
      • males
      • treatment with ovine prolactin or prolactin producing grafts, resulted in increased FSH levels
  • decreased luteinizing hormone level (MGI Ref ID J:5900)
    • males, in the pituitary
  • reproductive system phenotype
  • absent corpus luteum (MGI Ref ID J:12169)
  • absent ovarian follicles (MGI Ref ID J:12169)
    • large follicles absent
  • female infertility (MGI Ref ID J:36967)
    • still infertile after treatment with bovine growth hormone
  • male infertility (MGI Ref ID J:36967)
    • became fertile after treatment with bovine growth hormone
  • small ovary (MGI Ref ID J:12169)
  • nervous system phenotype
  • absent somatotrophs (MGI Ref ID J:7211)
    • pituitary gland lacked identifiable somatotropes
  • decreased thyrotroph cell number (MGI Ref ID J:12169)
    • reduced numbers of thyrotropic hormone producing cells
  • small adenohypophysis (MGI Ref ID J:12169)
    • anterior pituitary reduced in size

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

Prop1df/Prop1df

        involves: C57BL/6J
  • life span-post-weaning/aging
  • premature death (MGI Ref ID 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 (MGI Ref ID J:94409)
    • mutants crossed onto the C57BL/6J background have normal levels of gonadotropes

Prop1df/Prop1df

        DF
  • endocrine/exocrine gland phenotype
  • abnormal pituitary gland morphology (MGI Ref ID J:108961)
    • dysmorphic pituitary at birth when the pituitary is still normal size, and at 11 days of age when the pituitary is hypomorphic
    • abnormal pituitary gland development (MGI Ref ID J:108961)
    • pituitary gland hypoplasia (MGI Ref ID J:108961)
      • evident by 11 days of age
  • nervous system phenotype
  • abnormal pituitary gland morphology (MGI Ref ID J:108961)
    • dysmorphic pituitary at birth when the pituitary is still normal size, and at 11 days of age when the pituitary is hypomorphic
    • abnormal pituitary gland development (MGI Ref ID J:108961)
    • pituitary gland hypoplasia (MGI Ref ID J:108961)
      • evident by 11 days of age

Gene & Allele Details

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 Prop1df
Allele Name Ames dwarf
Common Name(s) DW; Prop1-; df;
Strain of OriginGoodale 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). [MGI Ref ID J:36967]

Control Information

  Allele   Control
 Prop1df  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
000306   STOCK Dll3pu + Tyrc-ch/+ Oca2p Tyrc-ch/J
View Strains carrying   Oca2p     (5 strains)

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:

Oca2p related

Dermatology Research
Color and White Spotting Defects

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

Neurobiology Research
Angelman syndrome

Prop1df 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 Oca2p/Oca2p Prop1df/J
Stock Number: 001618

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 ($)Genotype(s) Provided
Individual Mouse Price $264.30Homozygous for Prop1df
Pair $333.40Heterozygous for Prop1df x Heterozygous for Prop1dftested
Pair $307.90Heterozygous or Wild-type for Prop1df - +/? x Heterozygous or Wild-type for Prop1df - +/?untested

Supply Details

Standard SupplyRepository-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 Histology and Tissue Collection Services are available for all JAX® Mice strains. For more information, please contact Customer Service at orderquest@jax.org or 1-207-288-5845.
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.
LicensingSee General Terms and Conditions below  
Control InformationView Control Information in Strain Details.
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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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