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Type Mutant Stock; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation F?+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 | ||
|---|---|---|
| Wild-type from the colony | ||
| 101045 B6129SF2/J | (approximate) | |
| Considerations for Choosing Controls | ||
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
| 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 Origin | 129S7/SvEvBrd-Hprt1 | ||
| ES Cell Line Name | AB2.1 | ||
| ES Cell Line Strain | 129S7/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 Protocols
Generic HPRT_Alternative, SEP PCR, vers. 2
Human HPRT/KO2, SEP PCR, vers. 1
Helpful Links
Optimizing PCR Protocols
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]
Fsttm1Zuk relatedJhaveri 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]
Currently there no information available for this strain. This may be due to the supply level of this strain.
| Pricing for USA, Canada and Mexico shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 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.
| Pricing for International shipping destinations |
|
Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 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 for further information. |
|---|---|
| Supply Notes |
|
| 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. | ||
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| phone: | 207-288-6470 |
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