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.

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):283-96PubMed: 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):692-704PubMed: 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)	dwarf-J; dwJ; Pit1^dwJ
Gene Symbol and Name	Pou1f1, POU domain, class 1, transcription factor 1
Gene Synonym(s)
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 Phenotype

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
Mouse/Human Gene Homologs
- pituitary hormone deficiency

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Pou1f1^dw-J/Pou1f1^dw-J
C3H/HeJ-Pou1f1/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
- wer and smaller

abnormal cerebellar foliation
- small microfolia are present in homozygotes; these are much smaller and many are pointed rather than rounded at the cerebellar surface
- 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

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

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 limb
- b

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

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

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):283-96PubMed: 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):692-704PubMed: 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):586-90PubMed: 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):121-30PubMed: 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):1229-44PubMed: 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):528-33PubMed: 1977085 MGI: J:10774

Additional - Pou1f1^dw-J related

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Citation
When using the dwarf Jackson mouse strain in a publication, please cite the originating article(s) and include JAX stock #000510 in your Materials and Methods section.

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

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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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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Also Known As:dwarf Jackson

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