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Former Names B6C3Fe-a/a-sy (Changed: 15-DEC-04 ) Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N15 F1 Description
Most mice homozygous for the shaker-with-syndactylism mutation (sy) die within the first month, and none have lived to breed. Homozygous mutant mice may be syndactylous on all four feet; the forefeet may often be normal and possibly one or both hindfeet very occasionally so. The remainder of the skeleton shows many slight anomalies in addition to small size. The shafts of the long bones are considerably thinner than normal, and there are differences in shape of the sacral vertebrae and the scapula. Abnormal behavior appears during the first week. It consists of head-tossing and some circling, and the affected mice are always deaf. Abnormalities of the labyrinth can be seen at E13.Development
This shaker-with-syndactylism mutation (sy) was found by Dr. P. Hertwig among descendants of an irradiated male.
Strains carrying a allele
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Strains carrying other alleles of a
View Strains carrying other alleles of a (81 strains)
View Related Disease (OMIM) Terms
Related Disease (OMIM) Terms
NOT Contractural Arachnodactyly, Congenital; CCA - No similarity to the expected human disease phenotype was found.4
4 One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.
View Mammalian Phenotype Terms
Mammalian Phenotype Terms
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
sy/sy
Background Not Specified
- lethality-postnatal
- postnatal lethality (MGI Ref ID J:208)
- within 1 month of birth
- behavior/neurological phenotype
- abnormal motor capabilities/coordination/movement (MGI Ref ID J:208)
- hearing/vestibular/ear phenotype
- abnormal ear morphology (MGI Ref ID J:13002)
- abnormal membranous labyrinth (MGI Ref ID J:13002)
- development of excessive mesenchymal tissue followed by collapse of endolymphatic space and degeneration of membraneous labyrinth
- abnormal otic capsule morphology (MGI Ref ID J:13002)
- abnormal semicircular canal (MGI Ref ID J:13002)
- thin semicircular canals
- abnormal hearing physiology (MGI Ref ID J:13002)
- deafness (MGI Ref ID J:208)
- circling (MGI Ref ID J:208)
- head bobbing (MGI Ref ID J:208)
- limbs/digits/tail phenotype
- abnormal digit morphology (MGI Ref ID J:208)
- syndactyly (MGI Ref ID J:208)
- variable penetrance
- usually of digits 2 and 3 or 3 and 4
- decreased diameter of long bones (MGI Ref ID J:12945)
- thin long bones
- skeleton phenotype
- abnormal axial skeleton morphology (MGI Ref ID J:12945)
- abnormal sacral vertebrae morphology (MGI Ref ID J:12945)
- abnormal scapula morphology (MGI Ref ID J:12945)
- abnormal skeleton development (MGI Ref ID J:12945)
- decreased bone density (MGI Ref ID J:12945)
- decreased diameter of long bones (MGI Ref ID J:12945)
- thin long bones
- synostosis (MGI Ref ID J:12945)
- synostosis of phalanges
- variable penetrance
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:sy related
Cell Biology Research
Defects in Cell Adhesion Molecules
Defects in Extracellular Matrix Molecules
Genes Regulating Growth and Proliferation
Developmental Biology Research
Defects in Cell Adhesion Molecules
Defects in Extracellular Matrix Molecules
Skeletal Defects
syndactyly
Mouse/Human Gene Homologs
congenital contractural arachnodactyly
Neurobiology Research
Vestibular and Hearing Defects
Sensorineural Research
Vestibular and Hearing Defects
| Allele Symbol | a | ||
|---|---|---|---|
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
| Allele Symbol | sy | ||
| Allele Name | shaker with syndactylism | ||
| Allele Type | Radiation induced | ||
| Gene Symbol and Name | sy, shaker-with-syndactylism deletion region | ||
| Chromosome | 18 | ||
| Molecular Note | This deletion has been approximated to 1 cM region and consists of at least two genes. The gene responsible for deafness in the original sy mutant mouse and the ns allele has been identifed as Slc12a2. The gene responsible for the abnormal foot morphology seen in the fused phalanges alleles and the original sy mutant has been identified as Fbn2. [MGI Ref ID J:50578] | ||
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
Arteaga-Solis E; Gayraud B; Lee SY; Shum L; Sakai L; Ramirez F. 2001. Regulation of limb patterning by extracellular microfibrils. J Cell Biol 154(2):275-81. [PubMed: 11470817] [MGI Ref ID J:70592]
Chaudhry SS; Gazzard J; Baldock C; Dixon J; Rock MJ; Skinner GC; Steel KP; Kielty CM; Dixon MJ. 2001. Mutation of the gene encoding fibrillin-2 results in syndactyly in mice. Hum Mol Genet 10(8):835-43. [PubMed: 11285249] [MGI Ref ID J:68881]
sy relatedChaudhry SS; Gazzard J; Baldock C; Dixon J; Rock MJ; Skinner GC; Steel KP; Kielty CM; Dixon MJ. 2001. Mutation of the gene encoding fibrillin-2 results in syndactyly in mice. Hum Mol Genet 10(8):835-43. [PubMed: 11285249] [MGI Ref ID J:68881]
Deol MS. 1963. The development of the inner ear in mice homozygous for shaker-with-syndactylism. J Embryol Exp Morphol 11(3):493-512. [PubMed: 14061956] [MGI Ref ID J:13002]
Dixon MJ; Gazzard J; Chaudhry SS; Sampson N; Schulte BA; Steel KP. 1999. Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice. Hum Mol Genet 8(8):1579-84. [PubMed: 10401008] [MGI Ref ID J:56631]
Gruneberg H. 1956. Genetical studies on the skeleton of the mouse. XVIII. Three genes for syndactylism. J Genet 54:113-145. [MGI Ref ID J:13049]
Gruneberg H. 1962. Genetical studies on the skeleton of the mouse. XXXII. The development of shaker with syndactylism. Genet Res 3:157-166. [MGI Ref ID J:12945]
Hertwig P. 1942. Neue Mutationen und Koppelungsgruppen bei der Hausmaus Z Indukt Abstamm Vererbungsl 80:220-246. [MGI Ref ID J:208]
Johnson KR; Cook SA; Zheng QY. 1998. The original shaker-with-syndactylism mutation (sy) is a contiguous gene deletion syndrome. Mamm Genome 9(11):889-92. [PubMed: 9799839] [MGI Ref ID J:50578]
Currently there no information available for this strain. This may be due to the supply level of this strain.
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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 |
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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. |
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| Supply Notes |
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Purchasing Information
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