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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
Former Names C3H-jihes (Changed: 15-DEC-04 ) C3H-jihes/J (Changed: 15-DEC-04 ) C3HeB/FeJ-jihes/+ (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 N2F46p (09-NOV-05) Appearance
agouti, ataxic
Related Genotype: A/A Atcayji-hes/Atcayji-hes
agouti, unaffected
Related Genotype: A/A +/? or A/A Atcayji-hes/+Important Note
This strain is homozygous for the retinal degeneration allele Pde6brd1.Description
Mice homozygous for the hesitant spontaneous mutation (Atcayji-hes) can be recognized at 14 days of age by their slightly smaller size and hesitant walking motion. From 3 weeks of age on, the hindlimbs of homozygous mutant mice hesitate after lifting and then are placed flat on the surface and stiffly extended causing the posterior to rise. No body tremors, spasticity, or muscle degeneration is observed. Homozygotes of both sexes are fertile, although fertility in males may be reduced.Development
The hesitant (Atcayji-hes) mutation arose spontaneously on the C3H/HeJ-Tyrc-a background at The Jackson Laboratory in 1987. It was backcrossed twice to C3HeB/FeJ, using ovarian transplanted females crossed to C3HeB/FeJ males, then maintained by sibling breeding until F48 when another ovarian transplant and cross to C3HeB/FeJ was done, then sibling breeding resumed. It is maintained by breeding homozygous females with heterozygous males. In March 2003 this strain reached N2F48N1F4.
Control Information
| Control | ||
|---|---|---|
| +/? from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Pde6brd1 allele
View Strains carrying Pde6brd1 (74 strains)
008140 B6.C(Cg)-Atcayji/BurJ 000572 JIGR/DnJ
004297 B6.CXB1-Pde6brd10/J 005252 B6EiC3Sn.BLiA-Ts(1716)65Dn/DnJ 003647 B6EiC3Sn.BLiAF1 002802 C3.BLiA Pde6b+-Krd/J 001979 C3A.BLiA-Pde6b+.O20-Prph2Rd2/J 001912 C3A.BLiA-Pde6b+/J 003648 C3Sn.BLiA-Pde6b+/Dn 004766 C57BL/6J-Pde6brd1-2J/J 004828 FVB.129P2-Pde6b+ Tyrc-ch/AntJ 004808 STOCK Mapttm1(EGFP)Klt Tg(MAPT)8cPdav/J
Phenotype
Phenotype Information
assigned by genotype
Atcayji-hes/Atcayji-hes
C3H/HeJ-Atcayji-hes
- reproductive system phenotype
- reduced male fertility (MGI Ref ID J:1771)
- growth/size phenotype
- decreased body size (MGI Ref ID J:1771)
- at 14 days of age
- behavior/neurological phenotype
- abnormal gait (MGI Ref ID J:1771)
- abnormal gait is easily identified at 21 days of age and persists throughout the lifetime fo the mouse
- abnormal motor coordination/ balance (MGI Ref ID J:1771)
- at 14 days, mice exhibit hesitant movement when attempting to walk
- ataxia (MGI Ref ID J:85793)
- mild
- dystonia (MGI Ref ID J:85793)
- muscle phenotype
- dystonia (MGI Ref ID J:85793)
This mouse can be used to support research in many areas including:Atcayji-hes related
Pde6brd1 relatedDevelopmental Biology Research
Growth Defects
Postnatal Mortality
Homozygous
Mouse/Human Gene Homologs
ataxia, cerebellar, Cayman type
Neurobiology Research
Ataxia (Movement) Defects
Epilepsy
Tremor Defects
Mouse/Human Gene Homologs
retinitis pigmentosa, autosomal recessive
Sensorineural Research
Retinal Degeneration
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Atcayji-hes | ||
|---|---|---|---|
| Allele Name | hesitant | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | hes; jihes; | ||
| Strain of Origin | C3H/HeJ-Tyr | ||
| Gene Symbol and Name | Atcay, ataxia, cerebellar, Cayman type homolog (human) | ||
| Chromosome | 10 | ||
| Gene Common Name(s) | 3322401A10Rik; BB077577; BNIP-H; CLAC; KIAA1872; RIKEN cDNA 3322401A10 gene; expressed sequence BB077577; hes; hesitant; ji; jittery; | ||
| General Note | Homozygotes can be recognized at 14 days of age by their slightly smaller size and hesitant walking motion. From 3 weeks of age on, mutants' hindlimbs hesitate after lifting and then are placed flat on the surface and stiffly extended causing the posterior to rise. No body tremors, spasticity, or muscle degeneration is observed. Homozygotes of both sexes are fertile, although fertility in males may be reduced(J:1771). | ||
| Molecular Note | The mutation in the hesitant mouse has been identified as an IAP insertion in intron 1 that results in large aberrant transcripts and small amounts of normal transcript. [MGI Ref ID J:85793] | ||
| Allele Symbol | Pde6brd1 | ||
| Allele Name | retinal degeneration 1 | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Pdebrd1; rd; rd-1; rd1; rodless retina; | ||
Genotyping
Genotyping Information
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
Kapfhamer D; Sweet HO; Sufalko D; Warren S; Johnson KR; Burmeister M. 1996. The neurological mouse mutations jittery and hesitant are allelic and map to the region of mouse chromosome 10 homologous to 19p13.3. Genomics 35(3):533-8. [PubMed: 8812488] [MGI Ref ID J:34619]
Atcayji-hes relatedBomar JM; Benke PJ; Slattery EL; Puttagunta R; Taylor LP; Seong E; Nystuen A; Chen W; Albin RL; Patel PD; Kittles RA; Sheffield VC; Burmeister M. 2003. Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. (Erratum) Nat Genet 35(3):264-9. [PubMed: 14556008] [MGI Ref ID J:85793]
Concepcion D; Flores-Garcia L; Hamilton BA. 2009. Multipotent genetic suppression of retrotransposon-induced mutations by Nxf1 through fine-tuning of alternative splicing. PLoS Genet 5(5):e1000484. [PubMed: 19436707] [MGI Ref ID J:149430]
Kapfhamer D; Sweet HO; Sufalko D; Warren S; Johnson KR; Burmeister M. 1996. The neurological mouse mutations jittery and hesitant are allelic and map to the region of mouse chromosome 10 homologous to 19p13.3. Genomics 35(3):533-8. [PubMed: 8812488] [MGI Ref ID J:34619]
Sweet HO. 1991. Hesitant (hes) Mouse Genome 89(4):844. [MGI Ref ID J:1771]
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 Cryopreserved Embryos $1600.00 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 Cryopreserved Embryos $2160.00 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. |
|---|---|
| Supply Notes |
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| Important Note | |
| This strain is homozygous for the retinal degeneration allele Pde6brd1. | |
Control Information
| Control | ||
|---|---|---|
| +/? 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
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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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