Overview

Also Known As:dwarf

These mice carry a spontaneous mutation at the Pou1f1 locus characterized by severe proportional dwarfing, sterility, and hypothyroidism.

Genetic overview

Genetic Background	Generation

Pou1f1^dw

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

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Research Applications

Cell Biology Research
Developmental Biology Research
Endocrine Deficiency Research
Immunology, Inflammation and Autoimmunity Research
Reproductive Biology Research
Mouse/Human Gene Homologs

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

Mice homozygous mice for the dwarf spontaneous mutation (Pou1f1^dw) 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

A heterozygous dwarf (Pou1f1^dw/+) male from strain DW/J at generation F45 was crossed to a C57BL/6J female in 1969 to start the B6.DW line. Each generation thereafter a tested male carrier was backcrossed to a C57BL/6J female to N11. At N11 the strain was maintained by mating tested heterozygous siblings to F9. The strain was cryopreserved in 1981 by mating N11F9 tested heterozygous dwarf males to C57BL/6J females.

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

Allele Symbol: Pou1f1^dw

Allele Name	dwarf
Allele Type	Spontaneous
Allele Synonym(s)	dw; dwarf; Pit1^dw; Pit1^dwSn; Snell-Bagg pituitary dwarf; Snell's dwarf
Gene Symbol and Name	Pou1f1, POU domain, class 1, transcription factor 1
Gene Synonym(s)
Strain of Origin	STOCK Pmel^si
Chromosome	16
General Note	Phenotypic Similarity to Human Syndrome: Secondary Hypothyroidism J:144823 This mutation arose in a stock of silver mice obtained from an English fancier (J:13120). Homozygous mutant mice are about one-fourth to one-third normal size and are sterile. The small size is due to a defective anterior pituitary in which there is a great deficiency of GH-producing, PRL-producing, and TSH-producing cells (J:6754, J:7211, J:12161). The anterior pituitary of the Pit1^dw homozygote is already abnormal at birth with no identifiable GH or PRL cells (J:6684). GH and PRL synthesis is not detectable at any stages from birth to 6 weeks of age (J:6589), and there is probably also a deficiency of TSH and corticotropin (J:19241). Adult dwarf mouse pituitaries retain an embryonic, incompletely differentiated form of corticotrophs (J:13323). The defects in growth and fertility may be corrected by pituitary implants (J:13139) or by administration of pituitary hormones (J:30695, J:5085). Two populations of cells give rise to thyrotrophs in the anterior pituitary in developing mouse embryos. The first population arises at day 12 in the rostral tip of the gland. This population is independent of Pit1, as it appears in Pit1^dw mice, but it disappears by birth. The second population, which arises in the caudomedial portion of the gland at embryonic day 15.5, is Pit1-dependent, and is absent in Snell dwarf mice(J:17223). Pit1^dw mice have been reported to have a defective immune response that primarily affects the T cell system (J:19990), but other authors (J:6241, J:5638) have been unable to confirm these findings and attribute the previous results to secondary effects of dwarfing on overall vigor and nutritional status. Cross (J:2020) has shown that Pit1^dw homozygous mice do develop normal immunocompetence, but that this development is delayed relative to that in normal littermates. Dwarf homozygotes have a severe deficiency of dopamine in the median eminence (J:6652).
Molecular Note	A G-to-T transversion mutation in codon 261 converts a tryptophan residue in the homeodomain to a cysteine in the encoded protein (p.W261C).

Disease/Phenotype

Disease Terms

Research Areas By Phenotype

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

Genotype: Pou1f1^dw related

Cell Biology Research
- Signal Transduction
- Transcriptional Regulation
Developmental Biology Research
- Extended Life Span
- 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 information is associated with a similar, but not exact match to this JAX^® Mice strain

Genotype: Pou1f1^dw/Pou1f1^dw
Not Specified

cellular phenotype

abnormal actin cytoskeleton morphology
- organization of the actin cytoskeleton is abnormal in pillar cells at P25 through P42, as shown by FITC-phalloidin staining

craniofacial phenotype

abnormal molar root morphology
- mutants have normal molar crowns but reduced roots

endocrine/exocrine gland phenotype

absent lactotrophs
- PRL-producing mammotropes were absent

absent somatotrophs
- GH-producing somatotropes were absent

decreased thyrotroph cell number
- almost complete absence of TSH-producing thyrotroph

homeostasis/metabolism phenotype

decreased circulating prolactin level
- minimal concentrations of PRL were detected in the plasma

decreased growth hormone level
- GH was undetectable from birth to 6 weeks of age

decreased prolactin level
- PRL was undetectable from birth to 6 weeks of age

nervous system phenotype

abnormal cochlear outer hair cell morphology
- mean surface area of outer hair cells is reduced by about 15%
- the repeated pattern of outer hair cells in P14 and P25 mutants is disrupted

abnormal hair cell physiology
- mutant outer hair cells have varying mixtures of low- and high-voltage activated conductances compared to wild-type cells which have a dominant low-voltage activated KCNQ4 current and a reduction in KCNQ4 currents

abnormal orientation of outer hair cell stereociliary bundles
- the orientation of the outer hair cell bundles in P14 and P25 mutants is disrupted

absent cochlear microphonics
- adult mutants lack cochlear microphonics, indicating compromised outer hair cell function
- lack of a cochlear microphonics response is indicated by the absence of a frequency-dependent phase shift

absent lactotrophs
- PRL-producing mammotropes were absent

absent somatotrophs
- GH-producing somatotropes were absent

cochlear outer hair cell degeneration
- mice exhibit a small fraction of outer hair cell degeneration by P42 along the cochlea, although most outer hair cells survive
- the most prominent hair cell loss is in the lower apical region

decreased thyrotroph cell number
- almost complete absence of TSH-producing thyrotroph

short cochlear outer hair cells
- outer hair cells are about 24% shorter than in wild-type mice

pigmentation phenotype

abnormal strial intermediate cell morphology
- deterioration of the intermediate cells

reproductive system phenotype

infertility
- both males and females are entirely sterile

skeleton phenotype

abnormal molar root morphology
- mutants have normal molar crowns but reduced roots

growth/size/body region phenotype

abnormal molar root morphology
- mutants have normal molar crowns but reduced roots

proportional dwarf
- mature individuals are only one fourth the weight of their normal sibs
- reduced size begins after 14th day

hearing/vestibular/ear phenotype

abnormal cochlear outer hair cell morphology
- mean surface area of outer hair cells is reduced by about 15%
- the repeated pattern of outer hair cells in P14 and P25 mutants is disrupted

abnormal hair cell physiology
- mutant outer hair cells have varying mixtures of low- and high-voltage activated conductances compared to wild-type cells which have a dominant low-voltage activated KCNQ4 current and a reduction in KCNQ4 currents

abnormal Hensen stripe morphology
- the tectorial membrane has a more prominent Hensen's stripe that persists through P42

abnormal orientation of outer hair cell stereociliary bundles
- the orientation of the outer hair cell bundles in P14 and P25 mutants is disrupted

abnormal pillar cell morphology
- organization of the cytoskeleton is abnormal in pillar cells at P25 which persists through P42

abnormal stria vascularis morphology
- abnormalities in the stria vascularis are more obvious at P42 than at P12 or P21
- accumulation of dark lipofuscin-like deposits in the stria vacularis of P42 old mutants
- stria is smaller in width at P21 and P42, due to reduced contribution of intermediate cells
- stria vascularis shows less interdigitation of the intermediate cells with the basal aspect of the marginal cells and less infolding of the basolateral membrane

abnormal strial intermediate cell morphology
- deterioration of the intermediate cells

abnormal tectorial membrane morphology
- the tectorial membrane contains an abnormal protrusion at P21 which appears to be a more prominent Hensens stripe that persists through P42

abnormal tectorial membrane striated-sheet matrix morphology
- abnormalities in the structure of the striated-sheet matrix in the tectorial membrane

abnormal tunnel of Corti morphology
- delay in the opening of the tunnel of Corti at P12, but by P21, the opening is indistinguishable from wild-type mice

absent cochlear microphonics
- adult mutants lack cochlear microphonics, indicating compromised outer hair cell function
- lack of a cochlear microphonics response is indicated by the absence of a frequency-dependent phase shift

absent distortion product otoacoustic emissions
- adult mutants lack DPOAE, indicating compromised outer hair cell function

cochlear outer hair cell degeneration
- mice exhibit a small fraction of outer hair cell degeneration by P42 along the cochlea, although most outer hair cells survive
- the most prominent hair cell loss is in the lower apical region

deafness

decreased endocochlear potential
- 50% and 45% reduction in endocochlear potential in 3 and 6 week old mice, respectively

short cochlear outer hair cells
- outer hair cells are about 24% shorter than in wild-type mice

Genotype: Pou1f1^dw/Pou1f1^dw
DW/J Pou1f1

cellular phenotype

increased pituitary gland apoptosis
- at 1 day of age a slight increase in apoptosis in the pituitary is found
- Normal - however, no increase in apoptosis is observed at 8 days of age

hematopoietic system phenotype

decreased B cell number
- myelopoiesis and thymopoiesis were normal
- the frequency of B lineage cells is significantly reduced
- treatment with T4 restores B lineage deficiency

immune system phenotype

decreased B cell number
- myelopoiesis and thymopoiesis were normal
- the frequency of B lineage cells is significantly reduced
- treatment with T4 restores B lineage deficiency

mortality/aging

extended life span
- lifespan of female mice housed with normal-sized control females (caretakers) is increased by 50% (872 days) over median life span (579 days) of controls
- lifespan of male mice housed with control males is reduced by 6%, however, when transferred to female caretakers the two oldest males lived 24% longer than controls

nervous system phenotype

abnormal adenohypophysis morphology
- at 8 days of age there are fewer actively dividing cells in the pituitary but no abnormal increase in apoptosis

absent lactotrophs

absent somatotrophs

adenohypophysis hypoplasia
- although normal size and morphology at 1 day of age, the pituitary is smaller than normal by 11 days of age due to reduced growth of the anterior lobes

increased pituitary gland apoptosis
- at 1 day of age a slight increase in apoptosis in the pituitary is found
- Normal - however, no increase in apoptosis is observed at 8 days of age

endocrine/exocrine gland phenotype

abnormal adenohypophysis morphology
- at 8 days of age there are fewer actively dividing cells in the pituitary but no abnormal increase in apoptosis

absent lactotrophs

absent somatotrophs

adenohypophysis hypoplasia
- although normal size and morphology at 1 day of age, the pituitary is smaller than normal by 11 days of age due to reduced growth of the anterior lobes

increased pituitary gland apoptosis
- at 1 day of age a slight increase in apoptosis in the pituitary is found
- Normal - however, no increase in apoptosis is observed at 8 days of age

growth/size/body region phenotype

decreased body size
- although homozygotes are the same size as control littermates at birth, they begin to be smaller at 2 weeks of age, are noticably smaller by 3 weeks of age, and are only one third to one quarter the size of normal littermates as adults

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
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
Madsen MA; Hsieh CC; Boylston WH; Flurkey K; Harrison D; Papaconstantinou J. 2004. Altered oxidative stress response of the long-lived Snell dwarf mouse. Biochem Biophys Res Commun 318(4):998-1005PubMed: 15147972 MGI: J:90070

Additional - Pou1f1^dw related

Technical Support

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Genotyping Protocols
- Sanger sequencing:Pou1f1
- Genotyping resources and troubleshooting
Citation
When using the dwarf mouse strain in a publication, please cite the originating article(s) and include JAX stock #000772 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

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

Pricing & Availability

Cryo Recovery

Domestic
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Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	Heterozygous or Wild-type for Pou1f1<dw>

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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

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Selected References

Pou1f1dw

Allele Symbol: Pou1f1dw

Disease Terms

Research Areas By Phenotype

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

Genotype: Pou1f1dw related

Mammalian Phenotype Terms by Genotype

Genotype: Pou1f1dw/Pou1f1dwNot Specified

cellular phenotype

craniofacial phenotype

endocrine/exocrine gland phenotype

homeostasis/metabolism phenotype

nervous system phenotype

pigmentation phenotype

reproductive system phenotype

skeleton phenotype

growth/size/body region phenotype

hearing/vestibular/ear phenotype

Genotype: Pou1f1dw/Pou1f1dwDW/J Pou1f1

cellular phenotype

hematopoietic system phenotype

immune system phenotype

mortality/aging

nervous system phenotype

endocrine/exocrine gland phenotype

growth/size/body region phenotype

References

Additional References

Additional - Pou1f1dw 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

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

Allele Symbol: Pou1f1^dw

Genotype: Pou1f1^dw related

Genotype: Pou1f1^dw/Pou1f1^dw
Not Specified

Genotype: Pou1f1^dw/Pou1f1^dw
DW/J Pou1f1

Additional - Pou1f1^dw related