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General Terms and Conditions

Former Name	C3H/HeJ-Pit1dw-J/J    (Changed: 21-SEP-06 )
Genes & Alleles	Pou1f1;   Pou1f1dw-J;

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Product Information

Strain Details

Type JAX® GEMM® Strain - Coisogenic Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Mutant Strain Type JAX® GEMM® Strain - Spontaneous Mutation Species laboratory mouse Generation N7

Strain Description
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.

Strain 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.

Mammalian Phenotype Terms assigned by genotype Pou1f1dw-J/Pou1f1dw-J         C3H/HeJ-Pou1f1dw-J/J nervous system phenotype abnormal cerebellar granule layer (MGI Ref ID J:110624) 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 ectopic granule cells (MGI Ref ID J:110624) 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 abnormal cerebellum development (MGI Ref ID J:110624) cerebellum is smaller compared to wild type 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 abnormal cerebellar foliation (MGI Ref ID J:110624) pattern of foliation in mutants is variable; changes in foliation differ in the anterior vs posterior cerebellum 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 small microfolia are present in homozygotes; these are much smaller and many are pointed rather than rounded at the cerebellar surface abnormal dentate gyrus morphology (MGI Ref ID J:110624) 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 dark cells in the deep granule cell layer that are seen in wild type are only rarely seen in homozgotes abnormal hippocampus pyramidal cell layer (MGI Ref ID J:110624) packing density of pyramidal cell layer is significantly decreased abnormal pyramidal neuron morphology (MGI Ref ID J:110624) pyramidal cells appear smaller than in wild type decreased pyramidal neuron number (MGI Ref ID J:110624) in layer CA2 there appears to be a decrease in neuron number

Gene & Allele Details

Allele Symbol		Pou1f1dw-J
Allele Name		dwarf Jackson
Common Name(s)		Pit1dwJ; dwJ; dwarf-J;
Strain of Origin		C3H/HeJ
Gene Symbol and Name		Pou1f1, POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1)
Chromosome		16
Gene Common Name(s)		GHF-1; GHF1; GHF1A; Hmp1; PIT1; PIT1Z; 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]

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)

Research Applications

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

Pou1f1^dw-J 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

Reproductive Biology Research
Fertility Defects

References

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

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Price and Supply Information

Strain Name:	C3H/HeJ-Pou1f1dw-J/J
Stock Number:	000510

Price Details

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Supply Details

Standard Supply	Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information.
Supply Notes	Cryorecovery of Strains Needing Progeny Testing. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two untested males and two untested females (two pairs) will be recovered, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the overall recovery time to approximately 25 weeks. However, all pups recovered will be sent. 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 (at least two untested pairs) 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. Cryorecovery to establish a Dedicated Supply for greater quantities of mice One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org. 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.

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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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