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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 Segregating Inbred; Type Mutant Strain; Spontaneous Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. 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 three weeks of age.Description
Mice homozygous for the recessive Spnb4qv-lnd2J mutation are identifiable by two 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 four 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 Auditory-Evoked Brainstem Response (ABR) Thresholds web page. Note that this was generated using lower-volume clicks than for Spnb4qv-lnd2J.
Control Information
| Control | ||
|---|---|---|
| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
Related Strains
Strains carrying Pde6brd1 allele
View Strains carrying Pde6brd1 (74 strains)
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
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
Phenotype
Phenotype Information
assigned by genotype
Spnb4qv-lnd2J/Spnb4+
C3H/HeJ-Spnb4qv-lnd2J/J
- hearing/vestibular/ear phenotype
- reduced linear vestibular evoked potential (MGI Ref ID J:116914)
- elevated threshold and prolonged latency for central response peaks
Spnb4qv-lnd2J/Spnb4qv-lnd2J
C3H/HeJ-Spnb4qv-lnd2J/J
- hearing/vestibular/ear phenotype
- abnormal brainstem auditory evoked potential (MGI Ref ID J:71549)
- relative to CBA/CaJ, at 3 to 4 weeks of age response amplitudes are reduced, latencies prolonged, and the ABR is absent aside from the initial waveform peak
- decreased brainstem auditory evoked potential (MGI Ref ID J:71549)
- absent linear vestibular evoked potential (MGI Ref ID J:116914)
- VESPs are absent at the maximum stimulus intensity used
- nervous system phenotype
- abnormal auditory cortex morphology (MGI Ref ID J:71549)
- immunohistochemistry of the axon tracts in the auditory brainstem shows KCNA1 upregulation and redistribution along the length of the axons with increased staining for myelin protein S-100
- life span-post-weaning/aging
- premature death (MGI Ref ID J:30329)
- most homozygous animals die be 3.5-4 weeks of age
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
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Spnb4qv-lnd2J | ||
|---|---|---|---|
| Allele Name | lumbosacral neuroaxonal dystrophy 2 Jackson | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | lnd-2J; | ||
| Strain of Origin | C3H/HeJ | ||
| 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; | ||
| Molecular Note |
This allele was identified by a noncomplementation test with Sprb4 | ||
| Allele Symbol | Pde6brd1 | ||
| Allele Name | retinal degeneration 1 | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | Pdebrd1; rd; rd-1; rd1; rodless retina; | ||
Genotyping
Genotyping Information
Genotyping Protocols
Rab3atm1Sud, Separated PCR
Helpful Links
Genotyping resources and troubleshooting
References
References
Additional References
Bronson RT; Sweet HO; Spencer CA; Davisson MT. 1992. Genetic and age related models of neurodegeneration in mice: dystrophic axons. J Neurogenet 8(2):71-83. [PubMed: 1634998] [MGI Ref ID J:11718]
Spnb4qv-lnd2J relatedCook S. 1995. Remutation lnd<2J> Mouse Genome 93(4):1030. [MGI Ref ID J:30329]
Jones SM; Johnson KR; Yu H; Erway LC; Alagramam KN; Pollak N; Jones TA. 2005. A quantitative survey of gravity receptor function in mutant mouse strains. J Assoc Res Otolaryngol 6(4):297-310. [PubMed: 16235133] [MGI Ref ID J:116914]
Parkinson NJ; Olsson CL; Hallows JL; McKee-Johnson J; Keogh BP; Noben-Trauth K; Kujawa SG; Tempel BL. 2001. Mutant beta-spectrin 4 causes auditory and motor neuropathies in quivering mice. Nat Genet 29(1):61-5. [PubMed: 11528393] [MGI Ref ID J:71549]
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. |
|---|---|
| Supply Notes |
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| Important Note | |
| The C3H/HeJ background strain is homozygous for the retinal degeneration mutation Pde6brd1, which on this strain background causes blindness by three weeks of age. | |
Control 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. | ||
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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