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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 B6.C3 Pde6brd1 le/+ +-Lmx1adr-8J/+ (Changed: 15-DEC-04 ) Type Congenic; Mutant Strain; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Generation +N1
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 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
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
Genes & Alleles
Gene & Allele Information
| Allele Symbol | Hps4le | ||
|---|---|---|---|
| Allele Name | light ear | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | le; light-ear; | ||
| Strain of Origin | C3H/HeJ | ||
| Gene Symbol and Name | Hps4, Hermansky-Pudlak syndrome 4 homolog (human) | ||
| Chromosome | 5 | ||
| Gene Common Name(s) | 2010205O06Rik; AU040608; BLOC-3; C130020P05Rik; KIAA1667; LE; RIKEN cDNA 2010205O06 gene; 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 | ||
| Allele Type | Spontaneous | ||
| 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 | ||
| 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
Millen KJ; Millonig JH; Hatten ME. 2004. Roof plate and dorsal spinal cord dl1 interneuron development in the dreher mutant mouse. Dev Biol 270(2):382-92. [PubMed: 15183721] [MGI Ref ID J:92188]
Hps4le relatedLmx1adr-8J relatedChan WT; Sherer NM; Uchil PD; Novak EK; Swank RT; Mothes W. 2008. Murine leukemia virus spreading in mice impaired in the biogenesis of secretory lysosomes and Ca2+-regulated exocytosis. PLoS ONE 3(7):e2713. [PubMed: 18629000] [MGI Ref ID J:139279]
Chiang PW; Oiso N; Gautam R; Suzuki T; Swank RT; Spritz RA. 2003. The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles. J Biol Chem 278(22):20332-7. [PubMed: 12663659] [MGI Ref ID J:113973]
Delprato A; Raghavan S; Lyerla TA. 2000. An established light ear mutant (C57BL/6J-Pdeb(rd1) le) mouse cell line exhibits a block to secretion of lysosomal enzymes. Exp Cell Res 256(1):315-20. [PubMed: 10739679] [MGI Ref ID J:61552]
LaVail MM; Sidman RL. 1974. C57BL-6J mice with inherited retinal degeneration. Arch Ophthalmol 91(5):394-400. [PubMed: 4595403] [MGI Ref ID J:5434]
Lane PW; Green EL. 1967. Pale ear and light ear in the house mouse. Mimic mutations in linkage groups XII and XVII. J Hered 58(1):17-20. [PubMed: 6031677] [MGI Ref ID J:5032]
McGarry MP; Novak EK; Swank RT. 1986. Progenitor cell defect correctable by bone marrow transplantation in five independent mouse models of platelet storage pool deficiency. Exp Hematol 14(4):261-5. [PubMed: 3516713] [MGI Ref ID J:11990]
McGarry MP; Reddington M; Novak EK; Swank RT. 1999. Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome. Proc Soc Exp Biol Med 220(3):162-8. [PubMed: 10193444] [MGI Ref ID J:53228]
Meisler M; Levy J; Sansone F; Gordon M. 1980. Morphologic and biochemical abnormalities of kidney lysosomes in mice with an inherited albinism. Am J Pathol 101(3):581-93. [PubMed: 7446708] [MGI Ref ID J:6444]
Meisler MH. 1978. Synthesis and secretion of kidney beta-galactosidase in mutant le/le mice. J Biol Chem 253(9):3129-34. [PubMed: 417081] [MGI Ref ID J:5967]
Meisler MH; Wanner L; Strahler J. 1984. Pigmentation and lysosomal phenotypes in mice doubly homozygous for both light-ear and pale-ear mutant alleles. J Hered 75(2):103-6. [PubMed: 6232310] [MGI Ref ID J:7416]
Nazarian R; Falcon-Perez JM; Dell'Angelica EC. 2003. Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. Proc Natl Acad Sci U S A 100(15):8770-5. [PubMed: 12847290] [MGI Ref ID J:99881]
Nguyen T; Novak EK; Kermani M; Fluhr J; Peters LL; Swank RT; Wei ML. 2002. Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. J Invest Dermatol 119(5):1156-64. [PubMed: 12445206] [MGI Ref ID J:80751]
Novak EK; Hui SW; Swank RT. 1984. Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. Blood 63(3):536-44. [PubMed: 6696991] [MGI Ref ID J:7327]
Owen FL; Riblet R. 1984. Genes for the mouse T cell alloantigens Tpre, Tthy, Tind, and Tsu are closely linked near Igh on chromosome 12. J Exp Med 159(1):313-7. [PubMed: 6420496] [MGI Ref ID J:7307]
Paigen B; Holmes PA; Novak EK; Swank RT. 1990. Analysis of atherosclerosis susceptibility in mice with genetic defects in platelet function. Arteriosclerosis 10(4):648-52. [PubMed: 2369371] [MGI Ref ID J:29748]
Silvers WK. 1979. The Coat Colors of Mice; A Model for Mammalian Gene Action and Interaction. In: The Coat Colors of Mice. Springer-Verlag, New York. [MGI Ref ID J:78801]
Suzuki T; Li W; Zhang Q; Karim A; Novak EK; Sviderskaya EV; Hill SP; Bennett DC; Levin AV; Nieuwenhuis HK; Fong CT; Castellan C; Miterski B; Swank RT; Spritz RA. 2002. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet 30(3):321-4. [PubMed: 11836498] [MGI Ref ID J:75144]
Bergstrom DE; Gagnon LH; Eicher EM. 1999. Genetic and physical mapping of the Dreher locus on mouse Chromosome 1 Genomics 59:291-9. [PubMed: 10444330] [MGI Ref ID J:54765]
Chizhikov V; Steshina E; Roberts R; Ilkin Y; Washburn L; Millen KJ. 2006. Molecular definition of an allelic series of mutations disrupting the mouse Lmx1a (dreher) gene. Mamm Genome 17(10):1025-32. [PubMed: 17019651] [MGI Ref ID J:115043]
Washburn L. 2002. New allele of Lmx1a MGI Direct Data Submission :. [MGI Ref ID J:74414]
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 |
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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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Payment Terms and Conditions
Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.
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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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