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- Description
- Phenotype
- Genes & alleles
- Genotyping
- Health & husbandry
- References
- Purchasing information
- 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; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse Generation N12 Appearance
black
Related Genotype: a/aDescription
Mice homozygous for the opisthotonus spontaneous mutation (Itpr1opt) display a characteristic upward arching of head and tail. Homozygous mutant mice can be recognized at about 10 days of age by their loss of balance when standing or moving. Typical behavior of 15 to 20 day old homozygotes consists of falling over and struggling to get up. Agitation and severe opisthotonus ensue with death occuring by weaning age or before.
Control Information
| Control | ||
|---|---|---|
| Heterozygote from the colony | ||
| Wild-type from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Itpr1opt allele
000302 STOCK a/a MitfMi-wh +/+ Itpr1opt/J View Strains carrying Itpr1opt (1 strain)
Phenotype
Phenotype Information
assigned by genotype
The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.
Itpr1opt/Itpr1opt
involves: C57BLKS
- lethality-postnatal
- lethality at weaning (MGI Ref ID J:37547)
- mice die by weaning age or earlier
- mice die at 3-4 weeks of age
- behavior/neurological phenotype
- abnormal locomotor activity (MGI Ref ID J:37547)
- abnormal locomotor ability
- abnormal locomotor coordination (MGI Ref ID J:50383)
- abnormal walking
- impaired balance (MGI Ref ID J:13536)
- at 10 days of age, mice exhibit a loss of balance when standing or moving
- at 15-20 days of age, mice constantly fall over on their sides
- impaired coordination (MGI Ref ID J:50383)
- impaired righting response (MGI Ref ID J:13536)
- at 15-20 days of age, mice struggle to right themselves
- opisthotonus (MGI Ref ID J:13536)
- severe after 15-20 days of age
- seizures (MGI Ref ID J:50383)
- visible seizures appear by P14; range from body tremors to full tonic clonic convulsions; progressive with age
- range from subtle tremors to marked convulsions; progressive severity with age
- weakness (MGI Ref ID J:50383)
- weak and sickly appearance by 7 days of age
- cellular phenotype
- abnormal cell physiology (MGI Ref ID J:50383)
- quisqualate (QA) treatment of Purkinje neurons elicited a similar calcium release as controls; repeated QA application showed a less attenuated response in mutant cells than in controls
- growth/size phenotype
- decreased body size (MGI Ref ID J:37547)
- reported as smaller than littermates
- muscle phenotype
- opisthotonus (MGI Ref ID J:13536)
- severe after 15-20 days of age
- nervous system phenotype
- *normal* nervous system phenotype (MGI Ref ID J:50383)
- normal cerebellum morphology; normal numbers and morphology of Purkinje cells
- gross anatomy of the cerebellum appears normal
- seizures (MGI Ref ID J:50383)
- visible seizures appear by P14; range from body tremors to full tonic clonic convulsions; progressive with age
- range from subtle tremors to marked convulsions; progressive severity with age
This mouse can be used to support research in many areas including:Itpr1opt related
Neurobiology Research
Epilepsy
Metabolic Defects
Receptor Defects
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Itpr1opt | ||
|---|---|---|---|
| Allele Name | opisthotonus | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Itpr-1opt; | ||
| Strain of Origin | C57BLKS-Lepr | ||
| Gene Symbol and Name | Itpr1, inositol 1,4,5-triphosphate receptor 1 | ||
| Chromosome | 6 | ||
| Gene Common Name(s) | D6Pas2; DNA segment, Chr 6, Pasteur Institute 2; I145TR; INSP3R1; IP3R; IP3R1; InsP3R; InsP3R type I; Ip3r; Itpr-1; P400; Pcp-1; Pcp1; Purkinje cell protein 1; SCA15; SCA16; inositol 1,4,5-triphosphate binding protein; opisthotonus; opt; | ||
| Molecular Note | The molecular defect underlying the phenotype in the opisthotonus mouse involves a genomic deletion that alters the Itpr1 protein. The genomic deletion removes the first two exons from the mRNA, but does not disrupt the translational reading frame. The protein is reduced in expression and is predicted to have lost several modulatory sites. [MGI Ref ID J:37547] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
Genotyping
Genotyping Information
Genotyping Protocols
Itpr1opt, Separated PCR
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
Street VA; Bosma MM; Demas VP; Regan MR; Lin DD; Robinson LC ; Agnew WS ; Tempel BL. 1997. The type 1 inositol 1,4,5-trisphosphate receptor gene is altered in the opisthotonos mouse. J Neurosci 17(2):635-45. [PubMed: 8987786] [MGI Ref ID J:37547]
Itpr1opt relatedAoki T; Narita M; Ohnishi O; Mizuo K; Narita M; Yajima Y; Suzuki T. 2003. Disruption of the type 1 inositol 1,4,5-trisphosphate receptor gene suppresses the morphine-induced antinociception in the mouse. Neurosci Lett 350(2):69-72. [PubMed: 12972155] [MGI Ref ID J:107958]
Lane PW. 1972. Opisthotonus (opt); crooked (Cd). Mouse News Lett 47:36-7. [MGI Ref ID J:13536]
Przyklenk K; Maynard M; Whittaker P. 2006. First molecular evidence that inositol trisphosphate signaling contributes to infarct size reduction with preconditioning. Am J Physiol Heart Circ Physiol 291(4):H2008-12. [PubMed: 16731645] [MGI Ref ID J:116471]
Street VA; Bosma MM; Demas VP; Regan MR; Lin DD; Robinson LC ; Agnew WS ; Tempel BL. 1997. The type 1 inositol 1,4,5-trisphosphate receptor gene is altered in the opisthotonos mouse. J Neurosci 17(2):635-45. [PubMed: 8987786] [MGI Ref ID J:37547]
Street VA; Hopkins WF; Tempel BL. 1996. Genomic structure, sequence, and physiological expression of mKv 1.5, a mouse potassium channel gene. Epilepsy Res Suppl 12:165-75. [PubMed: 9302515] [MGI Ref ID J:50383]
Street VA; Robinson LC; Erford SK; Tempel BL. 1995. Molecular genetic analysis of distal mouse chromosome 6 defines gene order and positions of the deafwaddler and opisthotonos mutations. Genomics 29(1):123-30. [PubMed: 8530061] [MGI Ref ID J:28829]
van de Leemput J; Chandran J; Knight MA; Holtzclaw LA; Scholz S; Cookson MR; Houlden H; Gwinn-Hardy K; Fung HC; Lin X; Hernandez D; Simon-Sanchez J; Wood NW; Giunti P; Rafferty I; Hardy J; Storey E; Gardner RJ; Forrest SM; Fisher EM; Russell JT; Cai H; Singleton AB. 2007. Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans. PLoS Genet 3(6):e108. [PubMed: 17590087] [MGI Ref ID J:122793]
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 |
|
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.
Additional Supply Details
| 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.
Additional Supply Details
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Supply Details
| 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 Information
| Control | ||
|---|---|---|
| Heterozygote from the colony | ||
| Wild-type 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. | ||
Payment Terms and Conditions
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See Terms of Use tab for General Terms and Conditions
The Jackson Laboratory's Genotype Promise
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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JAX® Mice, Products & Services Conditions of Use
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