JAX Mouse Strain Datasheet - 000510

C3H/HeJ-Pou1f1^dw-J/J

Stock No:: 000510

Cryo Recovery

Overview

Mice homozygous mice for the dwarf Jackson spontaneous mutation (Pou1f1^dw-J) have a phenotype very similar to mice homozygous for the original dwarf mutation (Pou1f1^dw). 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.

Genetic overview

Genetic Background	Generation

Pou1f1^dw-J

Allele Type	Gene Symbol	Gene Name
Spontaneous	Pou1f1	POU domain, class 1, transcription factor 1

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Research Applications

Developmental Biology Research
Endocrine Deficiency Research
Immunology, Inflammation and Autoimmunity Research
Reproductive Biology Research

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Base Price

Starting at:

$2,595.00 Domestic price Cryo Recovery with Progeny Testing

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Details

Detailed Description

Development

The dwarf Jackson mutation (Pou1f1^dw) 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 (Pou1f1^dw-J/J) males at generation F136+16N6F1 to C3H/HeJ females.

Control Suggestions

Untyped from the colony
000659 C3H/HeJ

Additional Information

Considerations for Choosing Controls

Selected References

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: 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: J:98300

View All References

Genetics

Pou1f1^dw-J

Allele Symbol: Pou1f1^dw-J

Allele Name	dwarf Jackson
Allele Type	Spontaneous
Allele Synonym(s)	Pit1^dwJ; dwJ; dwarf-J
Gene Symbol and Name	Pou1f1, POU domain, class 1, transcription factor 1
Gene Synonym(s)	CPHD1; GHF-1; GHF1; GHF1A; Hmp1; PIT1; PIT1Z; POU1F1a; Pit-1; Pit-1; Pit1; Pit1; Pit1-rs1; Pit1-rs1; Snell dwarf; dw; dwarf; pituitary specific transcription factor 1; pituitary specific transcription factor 1, related sequence 1
Strain of Origin	C3H/HeJ
Chromosome	16
General Note	This remutation of the Snell dwarf gene occurred in the C3H/HeJ strain (J:6342). Mutant mice homozygous for Pit1^dw-J, like homozygotes for Pit1^dw, 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.

Disease/Phenotype

Disease Terms

Research Areas By Genotype

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

Genotype: Pou1f1^dw-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

Mammalian Phenotype Terms by Genotype

Genotype: Pou1f1^dw-J/Pou1f1^dw-J
C3H/HeJ-Pou1f1^dw-J/J

nervous system phenotype

abnormal cerebellar foliation
- 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
- 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
- pattern of foliation in mutants is variable; changes in foliation differ in the anterior vs posterior cerebellum
- small microfolia are present in homozygotes; these are much smaller and many are pointed rather than rounded at the cerebellar surface

abnormal cerebellar granule layer morphology
- 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 smallerwer and smaller

abnormal cerebellum development
- abnormalities in cerebellar lamination are observed; clusters or single ectopic granule cells are seen in the molecular layer and white matter with single cells most frequent in the vermis and in the hemisphere
- cerebellum is smaller compared to wild-type

abnormal dentate gyrus morphology
- dark cells in the deep granule cell layer that are seen in wild-type are only rarely seen in homozygotes
- 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 limbb

abnormal hippocampus pyramidal cell layer
- packing density of pyramidal cell layer is significantly decreased

abnormal hippocampus pyramidal cell morphology
- pyramidal cells appear smaller than in wild-type

decreased hippocampus pyramidal cell number
- in layer CA2 there appears to be a decrease in neuron number

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

References

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: 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: 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: 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: 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: 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: J:10774

Additional - Pou1f1^dw-J related

Barger 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: J:87701
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: J:10998
Drake JC; Bruns DR; Peelor FF 3rd; Biela LM; Miller RA; Miller BF; Hamilton KL. 2015. Long-lived Snell dwarf mice display increased proteostatic mechanisms that are not dependent on decreased mTORC1 activity. Aging Cell 14(3):474-82. PubMed: 25720574 MGI: J:222126
Eicher EM. 1977. Dwarf (dw) and glyoxylase-1 (Glo-1) Mouse News Lett 57:19. MGI: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: J:105551

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service	Genotype	Price
	Heterozygous or Wild-type for ou1f1<dw-J>

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 10 and 14 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 Customer Service for more information on the cost of progeny testing for a strain.

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. 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.

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.

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.

Terms Of Use

Terms of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCT(S)" means biological materials supplied by JACKSON, and their derivatives. "SERVICES" means projects conducted by JACKSON for other parties that may include but are not limited to the use of MICE or PRODUCTS. "RECIPIENT" means each recipient of MICE, PRODUCTS, or SERVICES provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE, PRODUCTS or SERVICES from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON’s prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED "AS IS". JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

Credit for PRODUCTS or SERVICES

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Animal Care and Use for SERVICES

Consistent with the requirement for a written understanding regarding animal care and use, the JACKSON Animal Care and Use Committee will review the animal care and use protocol(s) associated with any SERVICES to be performed at JACKSON, and JACKSON shall have ultimate responsibility and authority for the care of animals while on site or in JACKSON custody.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS, or SERVICES, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS, or SERVICES from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE, PRODUCTS or SERVICES are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or SERVICES. In addition, special terms and conditions of sale of certain MICE, PRODUCTS, or SERVICES may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and SERVICES by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or SERVICES shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or SERVICES by JACKSON.

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Control Suggestions

Additional Information

Selected References

Pou1f1dw-J

Allele Symbol: Pou1f1dw-J

Disease Terms

Research Areas By Genotype

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

Genotype: Pou1f1dw-J related

Mammalian Phenotype Terms by Genotype

Genotype: Pou1f1dw-J/Pou1f1dw-JC3H/HeJ-Pou1f1dw-J/J

nervous system phenotype

References

Additional References

Additional - Pou1f1dw-J related

Genotyping Protocols

Citation

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200

Live Mouse

Cryorecovery - Pricing

Cryorecovery of Strains Needing Progeny Testing

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Pou1f1^dw-J

Allele Symbol: Pou1f1^dw-J

Genotype: Pou1f1^dw-J related

Genotype: Pou1f1^dw-J/Pou1f1^dw-J
C3H/HeJ-Pou1f1^dw-J/J

Additional - Pou1f1^dw-J related