Strain Name:

B6;129S7-Fsttm1Zuk/J

Stock Number:

002788

Availability:

Repository-Cryopreserved

Use Restrictions Apply, see Terms of Use

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

Type Mutant Stock; Targeted Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Specieslaboratory mouse
GenerationF?+2
 
Donating Investigator Martin Matzuk,   Baylor College of Medicine

Description
Homozygous mice die within hours after birth due to a failure to breathe. They are smaller in size than normal wildtype siblings and show craniofacial, musculoskeletal, and skin defects.

Control Information

  Control
   Wild-type from the colony
   101045 B6129SF2/J (approximate)
 
  Considerations for Choosing Controls

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms
Tight Skin Contracture Syndrome, Lethal - Models with phenotypic similarity to human disease where etiologies are distinct.2
2 Human genes are associated with this disease. Orthologs of those genes do not appear in the mouse genotype(s).
View Mammalian Phenotype Terms

Mammalian Phenotype Terms
      assigned by genotype

Fsttm1Zuk/Fst+

        involves: 129S7/SvEvBrd * C57BL/6
  • skeleton phenotype
  • abnormal rib development (MGI Ref ID J:23925)
    • in 17% (6 of 35) heterozygotes, development of the thirteenth pair of ribs is limited; not oberved in wild-type controls
    • a higher percentage of heterozygotes show limited formation of the thirteenth rib pair on an inbred 129/SvEv background than on a hybrid 129/SvEv x C57BL/6 background (26.6% vs 17%, respectively)
  • decreased lumbar vertebrae number (MGI Ref ID J:23925)
    • 60% (21 of 35) heterozygotes have five lumbar vertebrae instead of six; only 2 of 15 wild-type controls show this defect
    • a higher percentage of heterozygotes show five lumbar vertebrae on an inbred 129/SvEv background than on a hybrid 129/SvEv x C57BL/6 background (86.6% vs 60%, respectively)

Fsttm1Zuk/Fsttm1Zuk

        involves: 129S7/SvEvBrd * C57BL/6
  • lethality-prenatal/perinatal
  • neonatal lethality (MGI Ref ID J:23925)
    • homozygotes survive to birth but die within a few hours of birth due to respiratory failure
  • craniofacial phenotype
  • abnormal hard palate (MGI Ref ID J:23925)
    • 21.4% (6 of 28) newborn homozygotes lack a hard palate
  • absent lower incisors (MGI Ref ID J:23925)
    • 6 of 34 newborn homozygotes lack lower incisors
  • cleft palate (MGI Ref ID J:23925)
    • 15.8% (3 of 19) newborn homozygotes display a cleft palate
  • growth retardation of incisors (MGI Ref ID J:23925)
    • 92% (23 of 34) newborn homozygotes show delayed development of lower incisors
  • growth/size phenotype
  • fetal growth retardation (MGI Ref ID J:23925)
    • newborn homozygotes are growth retarded
  • reduced fetal size (MGI Ref ID J:23925)
    • at E18.5, homozygotes are smaller and weigh ~12% less than wild-type counterparts
  • muscle phenotype
  • decreased skeletal muscle mass (MGI Ref ID J:23925)
    • newborn homozygotes show decreased muscle mass in the diaphragmatic, pectoralis major and intercostal muscles
    • however, no primary defects are observed as determined by analysis of ATPase activity, glycogen content and mitochondria
  • skeleton phenotype
  • abnormal rib development (MGI Ref ID J:23925)
    • in 61% (17 of 28) homozygotes, development of the thirteenth pair of ribs is limited
    • a higher percentage of homozygotes show limited formation of the thirteenth rib pair on an inbred 129/SvEv background than on a hybrid 129/SvEv x C57BL/6 background (81.8% vs 61%, respectively)
  • abnormal rib-sternum attachment (MGI Ref ID J:23925)
    • in 4 of 28 homozygotes, one or both of the seventh ribs fail to fuse to the sternum
  • decreased lumbar vertebrae number (MGI Ref ID J:23925)
    • all (28 of 28) newborn homozygotes have five lumbar vertebrae instead of six; only 2 of 15 wild-type controls show this defect
  • decreased rib number (MGI Ref ID J:23925)
    • in 28.6% (8 of 28) homozygotes, the thirteenth pair of ribs is absent
  • growth retardation of incisors (MGI Ref ID J:23925)
    • 92% (23 of 34) newborn homozygotes show delayed development of lower incisors
  • skin/coat/nails phenotype
  • hyperkeratosis (MGI Ref ID J:23925)
    • newborns display a 25% increase in the stratum corneum cells relative to wild-type controls
  • pallor (MGI Ref ID J:23925)
    • newborn homozygotes appear hypoxic (pale)
  • shiny skin (MGI Ref ID J:23925)
    • newborn homozygotes display a shiny skin
  • thickened epidermis (MGI Ref ID J:23925)
    • newborn homozygotes show a thickened granular and stratum corneum
  • tight skin (MGI Ref ID J:23925)
    • newborn homozygotes display a taut skin
  • touch/vibrissae phenotype
  • abnormal vibrissa morphology (MGI Ref ID J:23925)
    • mutant whiskers are very thin and incorrectly oriented with shafts projecting parallel before turning perpendicularly
  • digestive/alimentary phenotype
  • abnormal hard palate (MGI Ref ID J:23925)
    • 21.4% (6 of 28) newborn homozygotes lack a hard palate
  • cleft palate (MGI Ref ID J:23925)
    • 15.8% (3 of 19) newborn homozygotes display a cleft palate
  • homeostasis/metabolism phenotype
  • cyanosis (MGI Ref ID J:23925)
    • newborn homozygotes appear cyanotic
  • respiratory system phenotype
  • respiratory failure (MGI Ref ID J:23925)
    • newborn homozygotes fail to breathe
    • mutant lungs are sank in liquid, and alveolar spaces appear poorly expanded, although no primary pulmonary defects are detected

Fsttm1Zuk/Fsttm1Zuk

        B6J.129S7(B6)-Fsttm1Zuk
  • nervous system phenotype
  • abnormal neurogenesis (MGI Ref ID J:81451)
    • homozygotes display decreased olfactory epithelium neurogenesis, as shown by significantly reduced neurogenin-1-expressing immediate neuronal precursors and Ncam1-expressing olfactory receptor neurons
    • decreased neuronal precursor cell number (MGI Ref ID J:81451)
  • abnormal olfactory neuron morphology (MGI Ref ID J:81451)
    • at E17.5, homozygotes display a 37% decrease in proliferating, neurogenin-1-expressing immediate neuronal precursors within the olfactory epithelium
  • taste/olfaction phenotype
  • abnormal olfactory epithelium morphology (MGI Ref ID J:81451)
    • homozygotes display a 38% decrease in thickness of the olfactory epithelium
  • vision/eye phenotype
  • thin retinal ganglion layer (MGI Ref ID J:99244)
    • mutant retinas exhibit a 26% reduction in the number of cells in the ganglion cell layer and a marked decrease in thickness of the differentiated ganglion cell layer
    • unlike the situation in olfactory epithelium, mutant retinas display normal overall thickness as well as normal progenitor cell proliferation
    • in addition, mutant retinas show no obvious differences in amacrine cell or photoreceptor production relative to wild-type
  • respiratory system phenotype
  • abnormal olfactory epithelium morphology (MGI Ref ID J:81451)
    • homozygotes display a 38% decrease in thickness of the olfactory epithelium

The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.

Fsttm1Zuk/Fst+

        involves: 129S7/SvEvBrd
  • skeleton phenotype
  • abnormal rib development (MGI Ref ID J:23925)
    • in 26.6% (4 of 15) heterozygotes, development of the thirteenth pair of ribs is limited; not oberved in wild-type controls
    • a higher percentage of heterozygotes show limited formation of the thirteenth rib pair on an inbred 129/SvEv background than on a hybrid 129/SvEv x C57BL/6 background (26.6% vs 17%, respectively)
  • decreased lumbar vertebrae number (MGI Ref ID J:23925)
    • 86.6% (13 of 15) heterozygotes have five lumbar vertebrae instead of six found in wild-type controls
    • a higher percentage of heterozygotes show five lumbar vertebrae on an inbred 129/SvEv background than on a hybrid 129/SvEv x C57BL/6 background (86.6% vs 60%, respectively)

Fsttm1Zuk/Fsttm1Zuk

        involves: 129S7/SvEvBrd
  • lethality-prenatal/perinatal
  • neonatal lethality (MGI Ref ID J:23925)
    • homozygotes survive to birth but die within a few hours of birth due to respiratory failure
  • craniofacial phenotype
  • abnormal hard palate (MGI Ref ID J:23925)
    • 55% (6 of 11) newborn homozygotes lack a hard palate
  • growth retardation of incisors (MGI Ref ID J:23925)
    • all newborn homozygotes (11 of 11) show delayed development of lower incisors
  • growth/size phenotype
  • fetal growth retardation (MGI Ref ID J:23925)
    • newborn homozygotes are growth retarded
  • reduced fetal size (MGI Ref ID J:23925)
    • at E18.5, homozygotes are smaller and weigh ~12% less than wild-type counterparts
  • muscle phenotype
  • decreased skeletal muscle mass (MGI Ref ID J:23925)
    • newborn homozygotes show decreased muscle mass in the diaphragmatic, pectoralis major and intercostal muscles
    • however, no primary defects are observed as determined by analysis of ATPase activity, glycogen content and mitochondria
  • skeleton phenotype
  • abnormal rib development (MGI Ref ID J:23925)
    • in 81.8% (9 of 11) homozygotes, development of the thirteenth pair of ribs is limited
    • a higher percentage of homozygotes show limited formation of the thirteenth rib pair on an inbred 129/SvEv background than on a hybrid 129/SvEv x C57BL/6 background (81.8% vs 61%, respectively)
  • decreased lumbar vertebrae number (MGI Ref ID J:23925)
    • all (11 of 11) newborn homozygotes have five lumbar vertebrae instead of six found in wild-type mice
  • decreased rib number (MGI Ref ID J:23925)
    • in 2 of 11 homozygotes, the thirteenth pair of ribs is absent
  • growth retardation of incisors (MGI Ref ID J:23925)
    • all newborn homozygotes (11 of 11) show delayed development of lower incisors
  • skin/coat/nails phenotype
  • hyperkeratosis (MGI Ref ID J:23925)
    • newborns display a 25% increase in the stratum corneum cells relative to wild-type controls
  • pallor (MGI Ref ID J:23925)
    • newborn homozygotes appear hypoxic (pale)
  • shiny skin (MGI Ref ID J:23925)
    • newborn homozygotes display a shiny skin
  • thickened epidermis (MGI Ref ID J:23925)
    • newborn homozygotes show a thickened granular and stratum corneum
  • tight skin (MGI Ref ID J:23925)
    • newborn homozygotes display a taut skin
  • touch/vibrissae phenotype
  • abnormal vibrissa morphology (MGI Ref ID J:23925)
    • mutant whiskers are very thin and incorrectly oriented with shafts projecting parallel before turning perpendicularly
  • digestive/alimentary phenotype
  • abnormal hard palate (MGI Ref ID J:23925)
    • 55% (6 of 11) newborn homozygotes lack a hard palate
  • homeostasis/metabolism phenotype
  • cyanosis (MGI Ref ID J:23925)
    • newborn homozygotes appear cyanotic
  • respiratory system phenotype
  • respiratory failure (MGI Ref ID J:23925)
    • newborn homozygotes fail to breathe
    • mutant lungs are sank in liquid, and alveolar spaces appear poorly expanded, although no primary pulmonary defects are detected
View Research Applications

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

Fsttm1Zuk related

Dermatology Research
Skin and Hair Texture Defects

Developmental Biology Research
Craniofacial and Palate Defects
Embryonic Lethality (Homozygous)
Growth Defects
Skeletal Defects

Reproductive Biology Research
Endocrine Deficiencies Affecting Gonads
Fertility Defects

Genes & Alleles

Gene & Allele Information

 
Allele Symbol Fsttm1Zuk
Allele Name targeted mutation 1, Martin M Matzuk
Allele Type Targeted (knock-out)
Common Name(s) Fst-; Fsttm1; fsm1;
Mutation Made By Martin Matzuk,   Baylor College of Medicine
Strain of Origin129S7/SvEvBrd-Hprt1
ES Cell Line NameAB2.1
ES Cell Line Strain129S7/SvEvBrd-Hprt1
Gene Symbol and Name Fst, follistatin
Chromosome 13
Gene Common Name(s) FOL1; FS; Fst-288; RATFOL1;
Molecular Note An Hprt expression cassette replaced the entire gene, including all 6 exons. [MGI Ref ID J:23925]

Genotyping

Genotyping Information

Genotyping Protocols

Generic HPRT_Alternative, SEP PCR, vers. 2
Human HPRT/KO2, SEP PCR, vers. 1

Helpful Links

Optimizing PCR Protocols

References

References

Selected Reference(s)

Matzuk MM; Lu N; Vogel H; Sellheyer K; Roop DR; Bradley A. 1995. Multiple defects and perinatal death in mice deficient in follistatin [see comments] Nature 374(6520):360-3. [PubMed: 7885475]  [MGI Ref ID J:23925]

Additional References

Fsttm1Zuk related

Jhaveri S; Erzurumlu RS; Chiaia N; Kumar TR; Matzuk MM. 1998. Defective whisker follicles and altered brainstem patterns in activin and follistatin knockout mice. Mol Cell Neurosci 12(4-5):206-19. [PubMed: 9828086]  [MGI Ref ID J:50975]

Jorgez CJ; Klysik M; Jamin SP; Behringer RR; Matzuk MM. 2004. Granulosa cell-specific inactivation of follistatin causes female fertility defects. Mol Endocrinol 18(4):953-67. [PubMed: 14701941]  [MGI Ref ID J:89081]

Jukkola T; Lahti L; Naserke T; Wurst W; Partanen J. 2006. FGF regulated gene-expression and neuronal differentiation in the developing midbrain-hindbrain region. Dev Biol 297(1):141-57. [PubMed: 16782087]  [MGI Ref ID J:112633]

Kim J; Wu HH; Lander AD; Lyons KM; Matzuk MM; Calof AL. 2005. GDF11 controls the timing of progenitor cell competence in developing retina. Science 308(5730):1927-30. [PubMed: 15976303]  [MGI Ref ID J:99244]

Klein OD; Lyons DB; Balooch G; Marshall GW; Basson MA; Peterka M; Boran T; Peterkova R; Martin GR. 2008. An FGF signaling loop sustains the generation of differentiated progeny from stem cells in mouse incisors. Development 135(2):377-85. [PubMed: 18077585]  [MGI Ref ID J:130572]

Lin SY; Craythorn RG; O'Connor AE; Matzuk MM; Girling JE; Morrison JR; de Kretser DM. 2008. Female infertility and disrupted angiogenesis are actions of specific follistatin isoforms. Mol Endocrinol 22(2):415-29. [PubMed: 17932109]  [MGI Ref ID J:130061]

Nakamura M; Matzuk MM; Gerstmayer B; Bosio A; Lauster R; Miyachi Y; Werner S; Paus R. 2003. Control of pelage hair follicle development and cycling by complex interactions between follistatin and activin. FASEB J 17(3):497-9. [PubMed: 12514121]  [MGI Ref ID J:118511]

Roy A; Matzuk MM. 2006. Deconstructing mammalian reproduction: using knockouts to define fertility pathways. Reproduction 131(2):207-19. [PubMed: 16452715]  [MGI Ref ID J:108425]

Wang XP; Suomalainen M; Jorgez CJ; Matzuk MM; Wankell M; Werner S; Thesleff I. 2004. Modulation of activin/bone morphogenetic protein signaling by follistatin is required for the morphogenesis of mouse molar teeth. Dev Dyn 231(1):98-108. [PubMed: 15305290]  [MGI Ref ID J:91704]

Wang XP; Suomalainen M; Jorgez CJ; Matzuk MM; Werner S; Thesleff I. 2004. Follistatin regulates enamel patterning in mouse incisors by asymmetrically inhibiting BMP signaling and ameloblast differentiation. Dev Cell 7(5):719-30. [PubMed: 15525533]  [MGI Ref ID J:94518]

Wu HH; Ivkovic S; Murray RC; Jaramillo S; Lyons KM; Johnson JE; Calof AL. 2003. Autoregulation of Neurogenesis by GDF11. Neuron 37(2):197-207. [PubMed: 12546816]  [MGI Ref ID J:81451]

Yao HH; Aardema J; Holthusen K. 2006. Sexually dimorphic regulation of inhibin Beta B in establishing gonadal vasculature in mice. Biol Reprod 74(5):978-83. [PubMed: 16452457]  [MGI Ref ID J:107812]

Yao HH; Matzuk MM; Jorgez CJ; Menke DB; Page DC; Swain A; Capel B. 2004. Follistatin operates downstream of Wnt4 in mammalian ovary organogenesis. Dev Dyn 230(2):210-5. [PubMed: 15162500]  [MGI Ref ID J:90277]

Health & husbandry

Health & Colony Maintenance Information

Currently there no information available for this strain. This may be due to the supply level of this strain.

Purchasing information

Pricing, Supply Level & Notes, Controls, General Terms & Conditions

Pricing

Pricing for USA, Canada and Mexico shipping destinations View International pricing
Price (US dollars $)
Cryorecovery Fee $1900.00
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.

Additional Supply Details

Pricing for International shipping destinations View USA Canada and Mexico pricing
Price (US dollars $)
Cryorecovery Fee $2470.00
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.

Additional Supply Details

Supply Details

Standard SupplyCryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
Supply Notes
  • Cryorecovery - Standard.
    At least two mice that carry the mutation (if it is a mutant strain) will be provided. The total number of animals provided, their gender and genotype will vary. Please inquire if larger numbers of animals with specific genotypes and genders are needed. IMPORTANT NOTE: The genotypes of the animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire for possible genotypes for this specific strain. Animals typically ship within 13 to 16 weeks from your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will typically ship within 25 weeks.

    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.

  • This strain is included in the Induced Mutant Resource Colony collection.

Control Information

  Control
   Wild-type from the colony
   101045 B6129SF2/J (approximate)
 
  Considerations for Choosing Controls
  USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains.
  International - Control Pricing Information for Genetically Engineered Mutant Strains.

General Terms and Conditions


See Terms of Use


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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.
Ordering and Purchasing Information

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Contact Information
Orders & Technical Support
Tel: 800.422.6423 or 207.288.5845
Fax: 207.288.6150
Technical Support Email Form

Terms of Use

Terms of Use


General Terms and Conditions


For Licensing and Use Restrictions view the link(s) below:
- Use of MICE by companies or for-profit entities requires a license prior to shipping.

Contact information

General inquiries

Contracts Administration

phone:207-288-6470
fax:207-288-6655

JAX® Mice & Services Conditions of Use

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