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Former Names B6C3Fe-a/a-Glra1spd/+ (Changed: 15-DEC-04 ) Type Mutant Stock; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N21F1
Generation DefinitionsAppearance
black, tremors
Related Genotype: a/a Glraspd/Glraspd
black, unaffected
Related Genotype: a/a +/? or a/a Glraspd/+Description
Mice homozygous for the spasmodic spontaneous mutation (Glra1spd) have rapid tremors, stiff posture, and difficulty in righting themselves. No differences have been observed in the levels of major CNS or PNS myelin proteins or lipids. As with the spastic mutation (Glrbspa) of the mouse, aminooxyacetic acid improves the behavioral abnormalities in spasmodic mice, but, unlike in spastic mice, no changes in the postsynaptic receptors for glycine, GABA, or benzodiazepines have been observed.
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
Strains carrying a allele
View Strains carrying a (103 strains)
Strains carrying other alleles of Glra1
004109 C57BL/6J-Glra1nmf11/J 000536 C57BL/6J-Glra1spd-ot/J View Strains carrying other alleles of Glra1 (2 strains)
Strains carrying other alleles of a
View Strains carrying other alleles of a (178 strains)
View Related Disease (OMIM) Terms
Related Disease (OMIM) Terms
Hyperekplexia, Hereditary - Models with phenotypic similarity to human disease where etiologies involve orthologs.1
1 Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s). View Mammalian Phenotype Terms
Mammalian Phenotype Terms
assigned by genotype
Glra1spd/Glra1+
B6C3Fe a/a-Glra1spd/J
- reproductive system phenotype
- impaired acrosome reaction
- the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type (MGI Ref ID J:107699)
- impaired fertilization
- in mutants, the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type (MGI Ref ID J:107699)
Glra1spd/Glra1spd
B6C3Fe a/a-Glra1spd/J
- reproductive system phenotype
- impaired acrosome reaction
- the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type (MGI Ref ID J:107699)
- impaired fertilization
- in mutants, the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type (MGI Ref ID J:107699)
- male infertility
- males appear unable to breed (MGI Ref ID J:9027)
- behavior/neurological phenotype
- abnormal gait
- walk slowly and on their toes (MGI Ref ID J:9027)
- abnormal posture
- stiff posture (MGI Ref ID J:9027)
- hyperactivity
- mimics sublethal strychnine intoxication (MGI Ref ID J:20373)
- impaired righting response
- limb grasping
- tend to clasp their hind feet when picked up by the tail and spun (MGI Ref ID J:9027)
- tremors
- muscle phenotype
- hypertonia
- mimics sublethal strychnine intoxication (MGI Ref ID J:20373)
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Glra1spd/Glra1spd
involves: A/HeJView Research Applications
Research Applications
This mouse can be used to support research in many areas including:Glra1spd related
Cell Biology Research
Channel and Transporter Defects
chloride: glycine receptor
Mouse/Human Gene Homologs
Kok disease-hyperexplexia, startle disease
Neurobiology Research
Channel and Transporter Defects
chloride: glycine receptor
Neurotransmitter Receptor and Synaptic Vesicle Defects
Receptor Defects
Tremor Defects
| Allele Symbol | Glra1spd | ||
|---|---|---|---|
| Allele Name | spasmodic | ||
| Allele Type | Spontaneous | ||
| Common Name(s) |
Glra1 | ||
| Strain of Origin | A/HeJ | ||
| Gene Symbol and Name | Glra1, glycine receptor, alpha 1 subunit | ||
| Chromosome | 11 | ||
| Gene Common Name(s) | B230397M16Rik; GLYRA1; MGC138878; MGC138879; RIKEN cDNA B230397M16 gene; STHE; neuroscience mutagenesis facility, 11; nmf11; oscillator; ot; spasmodic; spd; | ||
| Molecular Note | This allele is the result of a missense mutation comprising a guanine to thymine transversion producing an alanine-to-serine exchange at position 52 of the N-terminal domain of the Glra1 protein. [MGI Ref ID J:18524] [MGI Ref ID J:20373] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
This strain will not have a genotyping protocol or one is not currently available.Helpful Links
Genotyping resources and troubleshooting
Lane PW; Ganser AL; Kerner AL; White WF. 1987. Spasmodic, a mutation on chromosome 11 in the mouse. J Hered 78(6):353-6. [PubMed: 3429842] [MGI Ref ID J:9027]
Ryan SG; Buckwalter MS; Lynch JW; Handford CA; Segura L; Shiang R; Wasmuth JJ; Camper SA; Schofield P; O'Connell P. 1994. A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse. Nat Genet 7(2):131-5. [PubMed: 7920629] [MGI Ref ID J:18524]
Glra1spd relatedGraham BA; Schofield PR; Sah P; Margrie TW; Callister RJ. 2006. Distinct physiological mechanisms underlie altered glycinergic synaptic transmission in the murine mutants spastic, spasmodic, and oscillator. J Neurosci 26(18):4880-90. [PubMed: 16672662] [MGI Ref ID J:108318]
Kingsmore SF; Giros B; Suh D; Bieniarz M; Caron MG; Seldin MF. 1994. Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. Nat Genet 7(2):136-41. [PubMed: 7920630] [MGI Ref ID J:18530]
Koch M; Kling C; Becker CM. 1996. Increased startle responses in mice carrying mutations of glycine receptor subunit genes. Neuroreport 7(3):806-8. [PubMed: 8733750] [MGI Ref ID J:33924]
Plappert CF; Pilz PK; Becker K; Becker CM; Schnitzler HU. 2001. Increased sensitization of acoustic startle response in spasmodic mice with a mutation of the glycine receptor alpha1-subunit gene. Behav Brain Res 121(1-2):57-67. [PubMed: 11275284] [MGI Ref ID J:96481]
Sato Y; Son JH; Tucker RP; Meizel S. 2000. The zona pellucida-initiated acrosome reaction: defect due to mutations in the sperm glycine receptor/Cl(-) channel. Dev Biol 227(1):211-8. [PubMed: 11076688] [MGI Ref ID J:107699]
Saul B; Schmieden V; Kling C; Mulhardt C; Gass P; Kuhse J; Becker CM. 1994. Point mutation of glycine receptor alpha 1 subunit in the spasmodic mouse affects agonist responses. FEBS Lett 350(1):71-6. [PubMed: 8062927] [MGI Ref ID J:20373]
Shiang R; Ryan SG; Zhu YZ; Hahn AF; O'Connell P; Wasmuth JJ. 1993. Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat Genet 5(4):351-8. [PubMed: 8298642] [MGI Ref ID J:20117]
Simon ES. 1997. Phenotypic heterogeneity and disease course in three murine strains with mutations in genes encoding for alpha 1 and beta glycine receptor subunits. Mov Disord 12(2):221-8. [PubMed: 9087981] [MGI Ref ID J:41909]
Zhao MG; Hulsmann S; Winter SM; Dutschmann M; Richter DW. 2006. Calcium-regulated potassium currents secure respiratory rhythm generation after loss of glycinergic inhibition. Eur J Neurosci 24(1):145-54. [PubMed: 16800867] [MGI Ref ID J:111542]
Currently there is 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 |
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Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $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.
Standard Supply
Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
Supply Notes
- Cryorecovery of Strains Needing Progeny Testing.
At least two untested males and two untested females (two pairs) will be recovered (eight or more mice is typical). The total number of animals provided, their gender and genotype will vary. Untested animals typically are available to ship between 13 and 16 weeks from the date of your order. If the first recovery attempt is unsuccessful, a second recovery will be done, extending the overall recovery time to approximately 25 weeks.Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation. Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 (from U.S.A., Canada and Puerto Rico only) or 1-207-288-5845 (from any location). The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.
Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
| Pricing for International shipping destinations |
|
![]() |
Cryopreserved Mice - Ready for Recovery
Animals Provided
Price (US dollars $) Cryorecovery* $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
- Cryorecovery of Strains Needing Progeny Testing.
At least two untested males and two untested females (two pairs) will be recovered (eight or more mice is typical). The total number of animals provided, their gender and genotype will vary. Untested animals typically are available to ship between 13 and 16 weeks from the date of your order. If the first recovery attempt is unsuccessful, a second recovery will be done, extending the overall recovery time to approximately 25 weeks.Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation. Please note that identified pairs may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation of the strain. Mating schemes are sometimes modified for successful cryopreservation. Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 (from U.S.A., Canada and Puerto Rico only) or 1-207-288-5845 (from any location). The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.
Cryorecovery to establish a Dedicated Supply for greater quantities of mice.
Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).
|
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Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information.
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| 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. | ||
Purchasing Information
JAX® Mice Orders
Surgical Services
Contact Information
Orders & Technical Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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