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- Description
- Disease & phenotype
- Genes & alleles
- Genotyping
- Health & care
- References
- Pricing & purchasing
- Terms of use
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 C3H/HeJ-Pit1dw-J/J (Changed: 21-SEP-06 ) Type Coisogenic; Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N7
Generation DefinitionsDescription
Mice homozygous mice for the dwarf Jackson spontaneous mutation (Pou1f1dw-J) have a phenotype very similar to mice homozygous for the original dwarf mutation (Pou1f1dw). Homozygous mutant mice are characterized by severe proportional dwarfing, sterility, and hypothyroidism. Adult dwarf mice are about one-fourth to one-third the size of wildtype mice. There is a lack of growth hormone, prolactin and thyroid stimulating hormone producing cells in the anterior pituitary leading to severe endocrine deficiency of these hormones. Homozygous mutant mice show a transient loss in cortical thymocytes associated with the primary defect in anterior pituitary.Development
The dwarf Jackson mutation (Pou1f1dw) arose spontaneously in strain C3H/HeJ at generation F136 in 1973 at The Jackson Laboratory. It was maintained by mating heterozygous tested sibling pairs until generation F15. It was then maintained by ovarian transplant using the cross-intercross system to generation N6 and then again by tested heterozygous pair matings. It was cryopreserved in 1983 by mating heterozygous (Pou1f1dw-J/J) males at generation F136+16N6F1 to C3H/HeJ females.
Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| 000659 C3H/HeJ | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying other alleles of Pou1f1
000772 B6.DW-Pou1f1dw/J 000681 DW.C3-Mlph+ Pou1f1+/J 000643 DW/J Mlphln Pou1f1dw/J View Strains carrying other alleles of Pou1f1 (3 strains)
Phenotype
Phenotype Information
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested. Pituitary Hormone Deficiency, Combined, 1; CPHD1 (POU1F1)
assigned by genotype
Pou1f1dw-J/Pou1f1dw-J
C3H/HeJ-Pou1f1dw-J/J
- nervous system phenotype
- abnormal cerebellar granule layer
- granule and molecular layers are markedly thinner in the wall facing the fissure and thicker in the wall facing the adjacent normal folium; Purkinje cells are absent from the the thinner wall and in the wall facing the normal folium, Purkinje cells are fewer and smaller (MGI Ref ID J:110624)
- ectopic cerebellar granule cells
- in some mice, clusters of granule cells are situated ectopically in the white matter of lobes I-II and lobe III with lobes IV-V merged into a single large folium (MGI Ref ID J:110624)
- abnormal cerebellum development
- abnormal cerebellar foliation
- pattern of foliation in mutants is variable; changes in foliation differ in the anterior vs posterior cerebellum (MGI Ref ID J:110624)
- in some mice, the size of the posterior cerebellum is decreased and the anterior cerebellum is increased in size; in others, the posterior cerebellum is relatively enlarged accompanied by relative anterior cerebellum size decrease (MGI Ref ID J:110624)
- in the anterior-most cerebellum there is a discontinuity between lobes I-II and lobe III with the pial surface in this region apparently in direct contact with the underlying white matter (MGI Ref ID J:110624)
- small microfolia are present in homozygotes; these are much smaller and many are pointed rather than rounded at the cerebellar surface (MGI Ref ID J:110624)
- abnormal dentate gyrus morphology
- the granule cell layer is thinner compared to wild-type and granule cells appear to be smaller and lower in number; ectopic granule cells are seen along the entire extent of the molecular layer with greatest numbers above the tip of the suprapyramidal limb (MGI Ref ID J:110624)
- dark cells in the deep granule cell layer that are seen in wild-type are only rarely seen in homozygotes (MGI Ref ID J:110624)
- abnormal hippocampus pyramidal cell layer
- packing density of pyramidal cell layer is significantly decreased (MGI Ref ID J:110624)
Pou1f1dw-J related
Developmental Biology Research
Growth Defects
Endocrine Deficiency Research
Hypothalamus/Pituitary Defects
Immunology, Inflammation and Autoimmunity Research
Immunodeficiency Associated with Other Defects
Reproductive Biology Research
Fertility Defects
Genes & Alleles
Gene & Allele Information provided by MGI
| Allele Symbol | Pou1f1dw-J | ||
|---|---|---|---|
| Allele Name | dwarf Jackson | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Pit1dwJ; dwJ; dwarf-J; | ||
| Strain of Origin | C3H/HeJ | ||
| Gene Symbol and Name | Pou1f1, POU domain, class 1, transcription factor 1 | ||
| Chromosome | 16 | ||
| Gene Common Name(s) | CPHD1; GHF-1; GHF1; GHF1A; Hmp1; PIT1; PIT1Z; POU1F1a; Pit-1; Pit1; Pit1-rs1; Snell dwarf; dw; dwarf; pituitary specific transcription factor 1; pituitary specific transcription factor 1, related sequence 1; | ||
| General Note | This remutation of the Snell dwarf gene occurred in the C3H/HeJ strain (J:6342). Mutant mice homozygous for Pit1dw-J, like homozygotes for Pit1dw, lack PIT1 protein activity and have no lactotrophs, thyrotrophs, or somatotrophs (J:10774). | ||
| Molecular Note | The mutation was characterized by Southern blot as either a chromosomal inversion or an insertion of greater than 4kb in the gene. PCR analysis revealed that most of exon 3 is intact, but the exact break points are not established. [MGI Ref ID J:10774] | ||
References
References provided by MGI
Selected Reference(s)
Boylston WH; Gerstner A; DeFord JH; Madsen M; Flurkey K; Harrison DE; Papaconstantinou J. 2004. Altered cholesterologenic and lipogenic transcriptional profile in livers of aging Snell dwarf (Pit1dw/dwJ) mice. Aging Cell 3(5):283-96. [PubMed: 15379852] [MGI Ref ID J:109839]
Papaconstantinou J; Deford JH; Gerstner A; Hsieh CC; Boylston WH; Guigneaux MM; Flurkey K; Harrison DE. 2005. Hepatic gene and protein expression of primary components of the IGF-I axis in long lived Snell dwarf mice. Mech Ageing Dev 126(6-7):692-704. [PubMed: 15888324] [MGI Ref ID J:98300]
Additional References
Camper SA; Saunders TL; Katz RW; Reeves RH. 1990. The Pit-1 transcription factor gene is a candidate for the murine Snell dwarf mutation. Genomics 8(3):586-90. [PubMed: 1981057] [MGI Ref ID J:10998]
Flurkey K; Papaconstantinou J; Harrison DE. 2002. The Snell dwarf mutation Pit1(dw) can increase life span in mice. Mech Ageing Dev 123(2-3):121-30. [PubMed: 11718806] [MGI Ref ID J:73731]
Hsieh CC; DeFord JH; Flurkey K; Harrison DE; Papaconstantinou J. 2002. Implications for the insulin signaling pathway in Snell dwarf mouse longevity: a similarity with the C. elegans longevity paradigm. Mech Ageing Dev 123(9):1229-44. [PubMed: 12020945] [MGI Ref ID J:77095]
Li S; Crenshaw EB 3rd; Rawson EJ; Simmons DM; Swanson LW; Rosenfeld MG. 1990. Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1. Nature 347(6293):528-33. [PubMed: 1977085] [MGI Ref ID J:10774]
Pou1f1dw-J relatedBarger JL; Walford RL; Weindruch R. 2003. The retardation of aging by caloric restriction: its significance in the transgenic era. Exp Gerontol 38(11-12):1343-51. [PubMed: 14698815] [MGI Ref ID J:87701]
Eicher EM. 1977. Dwarf (dw) and glyoxylase-1 (Glo-1) Mouse News Lett 57:19. [MGI Ref ID J:24757]
Eicher EM; Beamer WG. 1980. New mouse dw allele: genetic location and effects on lifespan and growth hormone levels. J Hered 71(3):187-90. [PubMed: 7391543] [MGI Ref ID J:6342]
Fang Q; Longo-Guess C; Gagnon LH; Mortensen AH; Dolan DF; Camper SA; Johnson KR. 2011. A modifier gene alleviates hypothyroidism-induced hearing impairment in Pou1f1dw dwarf mice. Genetics 189(2):665-73. [PubMed: 21840860] [MGI Ref ID J:177740]
Flurkey K; Papaconstantinou J; Harrison DE. 2002. The Snell dwarf mutation Pit1(dw) can increase life span in mice. Mech Ageing Dev 123(2-3):121-30. [PubMed: 11718806] [MGI Ref ID J:73731]
Flurkey K; Papaconstantinou J; Miller RA; Harrison DE. 2001. Lifespan extension and delayed immune and collagen aging in mutant mice with defects in growth hormone production. Proc Natl Acad Sci U S A 98(12):6736-41. [PubMed: 11371619] [MGI Ref ID J:69878]
Li S; Crenshaw EB 3rd; Rawson EJ; Simmons DM; Swanson LW; Rosenfeld MG. 1990. Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1. Nature 347(6293):528-33. [PubMed: 1977085] [MGI Ref ID J:10774]
Liang H; Masoro EJ; Nelson JF; Strong R; McMahan CA; Richardson A. 2003. Genetic mouse models of extended lifespan. Exp Gerontol 38(11-12):1353-64. [PubMed: 14698816] [MGI Ref ID J:87700]
Phelps CJ. 1994. Pituitary hormones as neurotrophic signals: anomalous hypophysiotrophic neuron differentiation in hypopituitary dwarf mice. Proc Soc Exp Biol Med 206(1):6-23. [PubMed: 7910409] [MGI Ref ID J:18152]
Sekiguchi M; Abe H; Moriya M; Tanaka O; Nowakowski RS. 1998. Cerebellar microfolia and other abnormalities of neuronal growth, migration, and lamination in the Pit1dw-J homozygote mutant mouse. J Comp Neurol 400(3):363-74. [PubMed: 9779941] [MGI Ref ID J:110624]
Swindell WR; Masternak MM; Bartke A. 2010. In vivo analysis of gene expression in long-lived mice lacking the pregnancy-associated plasma protein A (PappA) gene. Exp Gerontol 45(5):366-74. [PubMed: 20197085] [MGI Ref ID J:164141]
Vergara M; Smith-Wheelock M; Harper JM; Sigler R; Miller RA. 2004. Hormone-treated snell dwarf mice regain fertility but remain long lived and disease resistant. J Gerontol A Biol Sci Med Sci 59(12):1244-50. [PubMed: 15699523] [MGI Ref ID J:105551]
Health & husbandry
Health & Colony Maintenance Information
Animal Health Reports
Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.
Pricing and Purchasing
Pricing, Supply Level & Notes, Controls
| Pricing for USA, Canada and Mexico shipping destinations |
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Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $3175.00 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 13 and 16 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 |
|
Cryopreserved
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $4127.50 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 13 and 16 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).
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Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.
General Supply Notes
- Genomic DNA is available for this strain from the Mouse DNA Resource.
Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| 000659 C3H/HeJ | ||
| Considerations for Choosing Controls | ||
| Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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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.Ordering Information
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