Strain Name: |
B6.C3 Pde6brd1 Hps4le/+ +-Lmx1adr-8J/J |
|---|---|
Stock Number: |
004202 |
Availability: | Repository-Cryopreserved |
General Terms and Conditions |
| Former Name |
B6.C3 Pde6brd1 le/+ +-Lmx1adr-8J/+ (Changed: 15-DEC-04
) |
| Genes & Alleles | Hps4; Hps4le; Lmx1a; Lmx1adr-8J; Pde6b; Pde6brd1; |
Product Information
Strain Details
Type JAX® GEMM® Strain - Congenic Additional information on JAX® GEMM® Strains. Type JAX® GEMM® Strain - Mutant Strain Species laboratory mouse Generation +N1
Mammalian Phenotype Terms assigned by genotype |
Gene & Allele Details
| Allele Symbol | Hps4le | ||
|---|---|---|---|
| Allele Name | light ear | ||
| Common Name(s) | le; | ||
| Strain of Origin | C3H/HeJ | ||
| Gene Symbol and Name | Hps4, Hermansky-Pudlak syndrome 4 homolog (human) | ||
| Chromosome | 5 | ||
| Gene Common Name(s) | AU040608; C130020P05Rik; KIAA1667; LE; RIKEN cDNA C130020P05 gene; bK1048E9.4; bK1048E9.5; expressed sequence AU040608; le; light ear; mKIAA1667; | ||
| Molecular Note | The underlying mutation responsible for the phenotype in the light ear mouse was identified as a C to T substitution that resulted in a nonsense mutation, Gly50stop. The absence of protein in homozygous mutant animals was demonstrated through immunoblotanalysis. [MGI Ref ID J:75144] | ||
| Allele Symbol | Lmx1adr-8J | ||
| Allele Name | dreher 8 Jackson | ||
| Strain of Origin | B6.C3-Pde6brd1 Hps4le/J | ||
| Gene Symbol and Name | Lmx1a, LIM homeobox transcription factor 1 alpha | ||
| Chromosome | 1 | ||
| Gene Common Name(s) | LMX-1; LMX1; LMX1.1; MGC87616; dr; dreher; shaker short-tail; sst; | ||
| Molecular Note | The deletion of exons 4 and 5 resulted in a frameshift truncation. | ||
| Allele Symbol | Pde6brd1 | ||
| Allele Name | retinal degeneration 1 | ||
| Common Name(s) | rd; rd-1; rd1; rodless retina; | ||
Related Strains
Strains carrying Hps4le allele
000002 B6.C3-Pde6brd1 Hps4le/J View Strains carrying Hps4le (1 strain)
002624 B6.C3-Lmx1adr-6J/J 000636 B6C3Fe a/a-Lmx1adr-J/J
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
Additional Web Information
Congenic Nomenclature
Research Applications
This mouse can be used to support research in many areas including:Hps4le related
Lmx1adr-8J relatedCardiovascular Research
Diet-Induced Atherosclerosis (Relatively Resistant)
Vascular Defects (platelet defect)
Dermatology Research
Color and White Spotting Defects
Hematological Research
Platelet Defects (platelet storage pool deficiency)
Internal/Organ Research
Kidney Defects (lysosomal enzyme abnormalities)
Mouse/Human Gene Homologs
Hermansky-Pudlak syndrome
Pde6brd1 relatedDevelopmental Biology Research
Craniofacial and Palate Defects
Neural Tube Defects
Neurobiology Research
Cerebellar Defects
Neural Tube Defects
Vestibular and Hearing Defects
Sensorineural Research
Vestibular and Hearing Defects
Mouse/Human Gene Homologs
retinitis pigmentosa, autosomal recessive
Sensorineural Research
Retinal Degeneration
References
Additional ReferencesPrice and Supply Information
| Strain Name: | B6.C3 Pde6brd1 Hps4le/+ +-Lmx1adr-8J/J |
| Stock Number: | 004202 |
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 |
General Terms and Conditions
View JAX® Mice & Services Conditions of Use.
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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