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Strain Name:

B6.C3-Pde6brd1 Hps4le/J

Stock Number:

000002

Availability:

Repository- Live

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General Terms and Conditions

Former Name      B6.C3-Pde6brd1 Hps4le    (Changed: 15-DEC-04 )
      B6.C3-Pde6brd1 le    (Changed: 15-DEC-04 )
Genes & Alleles   Hps4;   Hps4le;   Pde6b;   Pde6brd1;

Product Information

Strain Details

Type JAX® GEMM® Strain - Congenic
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Mutant Strain
Mating SystemHomozygote x Homozygote         (Female x Male)
Specieslaboratory mouse
Background Strain C57BL/6J
Donor Strain Pde6brd1, C3H/HeJ; Hps4le , C3H/HeJ
Generation[N1p]+F4 (21-NOV-03)

Appearance
black with lightened ears, tail, and feet
Related Genotype: a/a Hps4le/Hps4le

Important Note
See article "Genetic Background Effects: Can Your Mice See?", JAX Notes Spring 2002, No. 485.

Related Disease (OMIM) Terms

Hermansky-Pudlak Syndrome; HPS
Mammalian Phenotype Terms assigned by genotype

Hps4le/Hps4le

        B6.C3-Pde6brd1 Hps4le
  • cellular phenotype
  • decreased lysosomal enzyme secretion (J:61552)
    • retained by cells rather than being secreted
    • elevated levels of enzymes in cells in culture
    • small elevations seen in liver and spleen
  • renal/urinary system phenotype
  • decreased protein excretion (J:5967)
    • Testosterone induced excretion of beta-galactosidase only one third level in controls and kidney levels are 4X control levels, synthesis increased 5X
    • of lysosomal enzymes
    • results in accumulation of lysosomal enzymes in proximal tubule cells of the kidney
  • pigmentation phenotype
  • abnormal choroid pigmentation (J:75144)
    • giant melanosomes present
  • abnormal melanosome morphology (J:80751)
    • increased proportion of immature forms
  • abnormal retinal pigment epithelium morphology (J:75144)
    • reduced number of melanosomes and reduced pigment content in remaining melanosomes
  • vision/eye phenotype
  • abnormal choroid pigmentation (J:75144)
    • giant melanosomes present
  • abnormal retinal pigment epithelium morphology (J:75144)
    • reduced number of melanosomes and reduced pigment content in remaining melanosomes
  • hematopoietic system phenotype
  • abnormal platelet dense granule morphology (J:7327)
    • decreased numbers of large dense granules
  • abnormal platelet physiology (J:11990)
    • hypersecretion of lysosomal enzymes after thrombin stimulation
    • decreased platelet serotonin level (J:7327)
      • 4.5 fold less serotonin present
      • uptake deficient
  • homeostasis/metabolism phenotype
  • abnormal platelet physiology (J:11990)
    • hypersecretion of lysosomal enzymes after thrombin stimulation
    • decreased platelet serotonin level (J:7327)
      • 4.5 fold less serotonin present
      • uptake deficient
  • increased bleeding time (J:7327)
    • prolonged bleeding times with relatively normal platelet numbers

The following phenotype information may relate to a genetic background differing from this JAX® Mice strain.

Hps4le/Hps4le

        involves: C3H/HeJ
  • vision/eye phenotype
  • abnormal eye pigmentation (J:5032)
    • lack eye pigment at birth
  • skin/coat/nails phenotype
  • abnormal skin pigmentation (J:5032)
    • reduced skin pigmentation at 3-4 days of age
    • abnormal ear pigmentation (J:5032)
      • reduced pigment in pinna of ears
  • diluted coat color (J:5032)
    • paler coat color in juveniles
  • pigmentation phenotype
  • abnormal eye pigmentation (J:5032)
    • lack eye pigment at birth
  • abnormal melanosome morphology (J:5032)
    • eumelanin granules in hair smaller than normal
  • abnormal skin pigmentation (J:5032)
    • reduced skin pigmentation at 3-4 days of age
    • abnormal ear pigmentation (J:5032)
      • reduced pigment in pinna of ears
  • diluted coat color (J:5032)
    • paler coat color in juveniles
  • hearing/vestibular/ear phenotype
  • abnormal ear pigmentation (J:5032)
    • reduced pigment in pinna of ears
  • craniofacial phenotype
  • abnormal ear pigmentation (J:5032)
    • reduced pigment in pinna of ears

Gene & Allele Details

Allele Symbol Hps4le
Allele Name light ear
Common Name(s) le;
Strain of OriginC3H/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. [J:75144]
 
Allele Symbol Pde6brd1
Allele Name retinal degeneration 1
Common Name(s) rd; rd-1; rd1; rodless retina;
Gene Symbol and Name Pde6b, phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide
Chromosome 5
Gene Common Name(s) CSNB3; PDEB; Pdeb; RP40; nmf137; phosphodiesterase, cGMP, rod receptor, beta polypeptide; r; rd; rd-1; rd1; rd10; retinal degeneration; retinal degeneration 1; retinal degeneration 10;
General Note Pde6brd1, retinal degeneration 1, recessive. Formerly r, rd, rd1. A mutation causing retinal degeneration described by Bruckner (J:25576) and by Tansley (J:15333) in various stocks was later found to be present in many inbred strains (J:114). Keeler (J:5007) thought it to be identical with the rodless retina mutation he had described in 1924 (J:24999); the identity has recently been proven by analyses of DNA from Keeler's original slides (J:15231).

Homozygotes are fully viable and fertile.Eyes develop normally up to 7 to 10 days after birth. At this stage the outer segment of the rod cell has begun to form, and in wild type mice it elongates rapidly during the 10th to 15th days. In Pde6brd1/Pde6brd1 mice the nascent outer segments and the rod cells degenerate rapidly so that by 15 days there is only a thin layer of rod cells left, and they have disappeared completely by 35 days (J:5250, J:5708). The inner nuclear layer and the retinal ganglion cells appear normal butmay show slight quantitative reduction (J:5812, J:5292).

Although the eyes of Pde6brd1 homozygotes are devoid of normal rods, the mice have some visual capacity (J:5980). About 3% of cones among the visual cells degenerate at a much slower rate than do rods, so that a few cones are still present at 18 months (J:5988). The surviving cones are postulated (J:25157) as the light receptors required for the persistence of circadian responses to dawn and dusk in Pde6brd1 homozygotes past the sstage when rods have disappeared (J:29236).

In fusion chimeras between wild type and Pde6brd1 homozygous embryos, the Pde6brd1 mutant acts in the photoreceptor cells rather than in the pigment epithelium of the retina (J:5708). Action within photoreceptor cells is also implied by the long term survival of wild type rod cells transplanted into Pde6brd1 homozygote retinas (J:20769). At a stage before degeneration can be seen, a deficiency of cGMP-PDE, andan excess of cGMP, appears in rod photoreceptor cells (J:5332).

The rate of retinal degeneration in mutants doubly homozygous for two retinal degeneration mutations (Pde6brd1 and RdsRd2) is intermediate between those of the two homozygotes (J:12044). The double homozygote shows an intermediate level of mRNAs for the ß subunit of cGMP-PDE and for several other phototransduction related proteins, suggesting an interaction between Pde6brd1 and RdsRd2 (J:2579).

Genbank ID for mutant sequence: M75166

Molecular Note Two mutations have been identified in rd1 mice. A murine leukimia virus (Xmv-28) insertion in reverse orientation in intron 1 is found in all mouse strains with the rd1 phenotype. Further, a nonsense mutation (C to A transversion) in codon 347 that results in a truncation eliminating more than half of the predicted encoded protein, including the catalytic domain has also been identified in all rd1 strains of mice. A specific degradation of mutant transcript during or after pre-mRNA splicing is suggested. [J:11513] [J:4366] [J:51361]

Control Information

  Allele   Control
 Hps4le  000664 C57BL/6J
   000664 C57BL/6J
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Hps4le allele
004202   B6.C3 Pde6brd1 Hps4le/+ +-Lmx1adr-8J/J
View Strains carrying   Hps4le     (1 strain)

Strains carrying   Pde6brd1 allele
004202   B6.C3 Pde6brd1 Hps4le/+ +-Lmx1adr-8J/J
001022   B6C3FeF1/J a/a
000652   BDP/J
000653   BUB/BnJ
002439   C3.129P2(B6)-B2mtm1Unc/J
005494   C3.129S1(B6)-Grm1rcw/J
000480   C3.MRL-Faslpr/J
001957   C3A Pde6brd1.O20/A-Prph2Rd2/J
005973   C3Bir.129P2(B6)-Il10C3Bir/LtJ
004326   C3Bir.129P2(B6)-Il10tm1Cgn/Lt
003968   C3Bir.129P2(B6)-Il10tm1Cgn/LtJ
001906   C3Ga.Cg-Catb/J
001904   C3H-Atcayji-hes/J
000659   C3H/HeJ
000784   C3H/HeJ-Faslgld/J
000509   C3H/HeJ-Lystbg-2J/J
002433   C3H/HeJ-Spnb4qv-lnd2J/J
005972   C3H/HeJBirLtJ
001824   C3H/HeJSxJ
000635   C3H/HeOuJ
000474   C3H/HeSn
001431   C3H/HeSn-ocd/J
000661   C3H/HeSnJ
002235   C3H/HeSnJ-Ctnna2cdf/J
002333   C3H/HeSnJ-gri/J
006435   C3HeB.SW-Soaa/MonJ
000658   C3HeB/FeJ
001576   C3HeB/FeJ-Atp7btx-J/J
002588   C3HeB/FeJ-Eya1bor/J
001533   C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J
001886   C3HeB/FeJLe a/a-gnd/J
001908   C3HfB/BiJ
001502   C3Sn.B6-Epha4rb/J
001547   C3Sn.Cg-Cm/J
000656   CBA/J
000813   CBA/J-Atp7aMo-pew/J
000660   DA/HuSnJ
000023   FL/1ReJ
000025   FL/4ReJ
003078   FVB-Tg(WapIgf1)39Dlr/J
003024   FVB.129P2(B6)-Fmr1tm1Cgr/J
002539   FVB.129P2-Abcb4tm1Bor/J
002935   FVB.129S2(B6)-Ccnd1tm1Wbg/J
002953   FVB.Cg-Tg(MMTVTGFA)254Rjc/J
003170   FVB.Cg-Tg(Myh6-tTA)6Smbf/J
003257   FVB/N-Tg(GFAPGFP)14Mes/J
002374   FVB/N-Tg(MMTV-PyVT)634Mul/J
002856   FVB/N-Tg(TIE2-lacZ)182Sato/J
002384   FVB/N-Tg(UcpDta)1Kz/J
001800   FVB/NJ
003487   FVB/NJ-Tg(XGFAP-lacZ)3Mes/J
001491   FVB/NMob
000734   MOLD/RkJ
000550   MOLF/EiJ
002423   NON/ShiLtJ
000679   P/J
000680   PL/J
100299   PLSJLF1/J
000269   SB/LeJ
005651   SJL.AK-Thy1a/TseJ
000686   SJL/J
000688   ST/bJ
004808   STOCK Mapttm1(EGFP)Klt Tg(MAPT)8cPdav/J
002648   STOCK a/a Cln6nclf/J
000279   STOCK gr +/+ Ap3d1mh/J
005965   STOCK Tg(Pomc1-cre)16Lowl/J
004770   SW.B6-Soab/J
002023   SWR.M-Emv21 Emv22/J
000689   SWR/J
000939   SWR/J-Clcn1adr-mto/J
000692   WB/ReJ KitW/J
100410   WBB6F1/J-KitW/KitW-v/J
000693   WC/ReJ KitlSl/J
100401   WCB6F1/J KitlSl KitlSl-d
View Strains carrying   Pde6brd1     (74 strains)

View Strains carrying other alleles of Pde6b     (8 strains)

Additional Web Information

Congenic Nomenclature
JAX Notes, Spring 2002; 485. Genetic Background Effects: Can Your Mice See?

Animal Health Reports

Room Number           A1

Research Applications

This mouse can be used to support research in many areas including:

Hps4le related

Cardiovascular 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 related
retinitis pigmentosa, autosomal recessive

Sensorineural Research
Retinal Degeneration

References

Additional References

Price and Supply Information

Strain Name: B6.C3-Pde6brd1 Hps4le/J
Stock Number: 000002

Price Details

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Supply Details

Standard SupplyRepository-Live. A collection of over 1000 strains maintained as live colonies. Individual colonies are sized to meet current customer demand. Delivery for orders of 10 mice or less ranges on average from one to eight weeks; mice are generally shipped between four to six weeks of age with a maximum shipping age of ~nine weeks. Colony sizes do not generally support stringent age specifications for large volumes of mice; however custom orders and larger quantities of mice are easily arranged. Estimated ship dates for all orders provided within 48 hours of order placement.
Supply Notes Usually shipped between four and eight weeks of age.
This strain is included in the Eye Mutant Resource within the Mouse Mutant Resource collection.
Genomic DNA is available for this strain from the Mouse DNA Resource.
LicensingSee General Terms and Conditions below  
Control InformationView Control Information in Strain Details.

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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.
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