Strain Name: |
C3H/HeJ-Spnb4qv-lnd2J/J |
|---|---|
Stock Number: |
002433 |
Availability: | Repository-Cryopreserved |
General Terms and Conditions |
| Genes & Alleles | Pde6b; Pde6brd1; Spnb4; Spnb4qv-lnd2J; |
Product Information
Strain Details
Type JAX® GEMM® Strain - Mutant Strain Additional information on JAX® GEMM® Strains. Type Segregating Inbred Type JAX® GEMM® Strain - Spontaneous Mutation Species laboratory mouse Generation F204+16N1F31pN1 Appearance
agouti, ataxic, tremors
Related Genotype: A/A Spnb4qv-lnd2J/Spnb4qv-lnd2J
agouti, unaffected
Related Genotype: A/A Spnb4qv-lnd2J/+ or A/A ?/+Important Note
The C3H/HeJ background strain is homozygous for the retinal degeneration mutation Pde6brd1, which on this strain background causes blindness by 3 weeks of age.Strain Description
Mice homozygous for the recessive Spnb4qv-lnd2J mutation are identifiable by 2 weeks of age by their small size relative to their littermates. Their bodies quiver, and their movements are less coordinated than those of littermates. Mutants become progressively wasted and die by 4 weeks of age. (Cook 1995; Samples 2003) Their phenotype is more severe than that of mice homozygous for the original Spnb4qv-lnd allele, which survive at least 10 months. Spnb4qv-lnd/Spnb4qv-lnd mice were found to have dystrophic axons in the lower lumbar and sacral spinal cord. The dystrophic axons were observed in both white and gray matter, but particularly in dorsolateral white matter (Bronson et al. 1992). The acoustic brainstem response ABR) pattern of Spnb4qv-lnd2J homozygous mice exposed to click stimuli of 80, 70, 60 and 50 decibels exhibited only the first expected peak, indicating the mice have normal cochlear function but attenuated brainstem response (Zheng 2003). The similar ABR pattern of an Spnb4qv mouse may be viewed the following web page. Note that this was generated using lower-volume clicks than for Spnb4qv-lnd2J.
Mammalian Phenotype Terms assigned by genotype |
Gene & Allele Details
| Allele Symbol | Spnb4qv-lnd2J | ||
|---|---|---|---|
| Allele Name | lumbosacral neuroaxonal dystrophy 2 Jackson | ||
| Common Name(s) | lnd-2J; | ||
| Strain of Origin | C3H/He | ||
| Gene Symbol and Name | Spnb4, spectrin beta 4 | ||
| Chromosome | 7 | ||
| Gene Common Name(s) | 1700022P15Rik; 5830426A08Rik; KIAA1642; QV; RIKEN cDNA 1700022P15 gene; RIKEN cDNA 5830426A08 gene; ROSA62; SPTBN3; SpbIV; dyn; lnd; lumbosacral neuroaxonal dystrophy; neuroaxonal dystrophy; neuroscience mutagenesis facility, 261; neuroscience mutagenesis facility, 379; nmf261; nmf379; quivering; qv; | ||
| General Note | Spnb4qv-lnd-2J, lumbosacral neuraxonal dystrophy-2J, recessive. This spontaneous remutation arose in C3H/HeJ at The Jackson Laboratory. The presence of a remutation was proven by complementation test (J:30329). | ||
| Molecular Note | A remutation that arose at The Jackson Laboratory. | ||
| Allele Symbol | Pde6brd1 | ||
| Allele Name | retinal degeneration 1 | ||
| Common Name(s) | rd; rd-1; rd1; rodless retina; | ||
Control Information
| Allele | Control | |
|---|---|---|
| Spnb4qv-lnd2J | Untyped from the colony | |
| Considerations for Choosing Controls | ||
Genotyping Protocols
Rab3atm1Sud
Related Strains
Strains carrying Pde6brd1 allele
View Strains carrying Pde6brd1 (74 strains)
004297 B6.CXB1-Pde6brd10/J 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
005098 A.B6 Tyr+-Spnb4qv-7J/J 001769 B6.B10Sn-Spnb4qv-lnd/J 005753 B6;CByJ-Spnb4qv-9J/J 002996 B6ByJ;D2-Spnb4qv-4J/J 000638 C3FeB6 A/Aw-J-Spnb4qv-J/J 008522 C57BL/6J-Spnb4qv-11J/J 001028 C57BL/6J-Spnb4qv-3J/J 005449 C57BL/6J-Spnb4qv-8J/J 008521 C;B6-Spnb4qv-10J/J
Research Applications
This mouse can be used to support research in many areas including:Pde6brd1 related
Spnb4qv-lnd2J relatedMouse/Human Gene Homologs
retinitis pigmentosa, autosomal recessive
Sensorineural Research
Retinal Degeneration
Neurobiology Research
Ataxia (Movement) Defects
Neurodegeneration
Neuromuscular Defects
Tremor Defects
References
Additional ReferencesPrice and Supply Information
| Strain Name: | C3H/HeJ-Spnb4qv-lnd2J/J |
| Stock Number: | 002433 |
Price Details
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Supply Details
| Standard Supply | Repository-Cryopreserved. Must Be Recovered. Please refer to pricing and supply notes for further information. |
|---|---|
| Supply Notes |
Cryorecovery - Standard. The recovery process begins when a signed agreement form is returned to the Customer Service Department after order placement. Although results vary by strain, at least two males and two females (two pairs) will be provided, typically within 15 weeks of our receipt of the signed agreement form. If the first recovery attempt is unsuccessful or only one pair is recovered, a second recovery will be done, extending the delivery time to approximately 25 weeks. At least one member of each pair will be of known genotype and will carry the mutation if it is a mutant strain. Please note that 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. Price represents a repository maintenance fee, which includes the cost of recovery of the strain from the cryopreservation resource and the periodic replacement of the frozen embryos used for recovery. Cryorecovery to establish a Dedicated Supply for greater quantities of mice. |
| Licensing | See General Terms and Conditions below |
| Control Information | View Control Information in Strain Details. |
General Terms and Conditions
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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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