Strain Name:

C3H/HeJ-Pou1f1dw-J/J

Stock Number:

000510

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Cryopreserved - Ready for recovery

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.
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Specieslaboratory mouse
GenerationN7
Generation Definitions

Description
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

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Pituitary Hormone Deficiency, Combined, 1; CPHD1   (POU1F1)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Pou1f1dw-J/Pou1f1dw-J

        C3H/HeJ-Pou1f1dw-J/J
  • nervous system phenotype
  • 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 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
    • cerebellum is smaller compared to wild-type   (MGI Ref ID J:110624)
    • 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   (MGI Ref ID J:110624)
    • 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)
    • abnormal hippocampus pyramidal cell morphology
      • pyramidal cells appear smaller than in wild-type   (MGI Ref ID J:110624)
      • decreased hippocampus pyramidal cell number
        • in layer CA2 there appears to be a decrease in neuron number   (MGI Ref ID J:110624)
View Research Applications

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

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 OriginC3H/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] [MGI Ref ID J:10998]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

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 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 Ref ID 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 Ref ID J:10998]

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 View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3300.00
Animals Provided

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 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 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 View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $4290.00
Animals Provided

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 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 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).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

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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