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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 Appearance
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 | ||
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| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
Strains carrying a allele
View Strains carrying a (104 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 (81 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 (MGI Ref ID J:107699)
- the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type
- impaired fertilization (MGI Ref ID J:107699)
- in mutants, the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type
Glra1spd/Glra1spd
B6C3Fe a/a-Glra1spd/J
- reproductive system phenotype
- impaired acrosome reaction (MGI Ref ID J:107699)
- the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type
- impaired fertilization (MGI Ref ID J:107699)
- in mutants, the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type
- male infertility (MGI Ref ID J:9027)
- males appear unable to breed
- behavior/neurological phenotype
- abnormal gait (MGI Ref ID J:9027)
- walk slowly and on their toes
- abnormal posture (MGI Ref ID J:9027)
- stiff posture
- hyperactivity (MGI Ref ID J:20373)
- mimics sublethal strychnine intoxication
- impaired righting response (MGI Ref ID J:9027)
- exhibit difficulty in regaining an upright posture when turned on their sides
- response improved in mice receiving IP injections of aminooxyacetic acid, 15 micrograms/gm body weight
- limb grasping (MGI Ref ID J:9027)
- tend to clasp their hind feet when picked up by the tail and spun
- tremors (MGI Ref ID J:9027)
- at rest, in a quiet cage, appear normal but are hyperexcitable and shake rapidly when disturbed
- exhibit a rapid tremor when picked up by the tail, however show no differences in the levels of the major CNS and PNS myelin proteins of lipids
- muscle phenotype
- hypertonia (MGI Ref ID J:20373)
- mimics sublethal strychnine intoxication
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Glra1spd/Glra1spd
involves: A/HeJ
- behavior/neurological phenotype
- abnormal startle reflex (MGI Ref ID J:33924)
- hyperekplexia (MGI Ref ID J:33924)
- increased startle reflex (MGI Ref ID J:33924)
- exhibit increased startle responses to acoustic stimuli of different intensities compared to wild-type
- homozygotes are more responsive than Glrbspa homozygotes at the lowest stimulus intensities
- hearing/vestibular/ear phenotype
- abnormal startle reflex (MGI Ref ID J:33924)
View 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 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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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. |
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| Supply Notes |
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| 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
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Contact Information
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Technical Support Email Form
| phone: | 207-288-6470 |
| fax: | 207-288-6655 |
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