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Strain Name:

C57BL/6J-LdlrHlb301/J

Stock Number:

005061

Availability:

Repository-Cryopreserved

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General Terms and Conditions

Former Name      C57BL/6J-Hlb301/J    (Changed: 09-MAY-06 )
      HLB-301    (Changed: 29-MAR-06 )
Strain Common Names      HLB301;
Genes & Alleles   Ldlr;   LdlrHlb301;

Product Information

Strain Details

Type JAX® GEMM® Strain - Chemically Induced Mutation
Additional information on JAX® GEMM® Strains.
Type JAX® GEMM® Strain - Coisogenic
Type JAX® GEMM® Strain - Mutant Strain
Specieslaboratory mouse
H2 Haplotypeb

Appearance
black
Related Genotype: a/a

Strain Description
For information on Ldlrhlb301 view the web page on the Mouse Heart, Lung, Blood and Sleep Disorders Center site.

Related Disease (OMIM) Terms

Hypercholesterolemia, Autosomal Dominant
Mammalian Phenotype Terms assigned by genotype

LdlrHlb301/Ldlr+

        C57BL/6J-LdlrHlb301/J
  • homeostasis/metabolism phenotype
  • *normal* homeostasis/metabolism phenotype (MGI Ref ID J:82961)
    • mice with this mutation do not develop xanthomas when fed a high fat, high cholesterol diet
    • mice with this mutation do not become obese when fed a high fat, high cholesterol diet
    • increased circulating cholesterol level (MGI Ref ID J:82961)
      • on a chow diet, 14 week old heterozygous mutant female, but not male, mice exhibit significantly (p<=0.05) greater elevation of total serum cholesterol than do C57BL/6J controls
      • after 5 weeks on a high fat, high cholesterol diet, 14 week old heterozygous mutant mice exhibit significantly (p<=0.05) greater elevation of total serum cholesterol than do C57BL/6J control mice; heterozygous G3 female mice (N=4) exhibited, on average, 4.5-fold baseline levels of total cholesterol, versus 2.5-fold baseline for controls
      • increased circulating HDL cholesterol level (MGI Ref ID J:82961)
        • on a chow diet, 14 week old heterozygous mutant female, but not male, mice exhibit significantly (p<=0.05) greater elevation of HDL cholesterol than do C57BL/6J controls
        • after 5 weeks on a high fat, high cholesterol diet, 14 week old heterozygous mutant mice exhibit significantly (p<=0.05) greater elevation of HDL cholesterol than do C57BL/6J control mice
    • increased foam cell number (MGI Ref ID J:82961)
      • lesions with foam cell accumulations are seen in coronary arteries
  • cardiovascular system phenotype
  • increased susceptibility to atherosclerosis (MGI Ref ID J:82961)
    • all mice with this mutation fed an atherogenic diet for 5 weeks develop severe aortic atherosclerosis with collagen deposition, atherosclerosis of the pulmonary arteries, and incipient lesions with foam cell accumulation in the coronary arteries
  • hematopoietic system phenotype
  • increased foam cell number (MGI Ref ID J:82961)
    • lesions with foam cell accumulations are seen in coronary arteries
  • immune system phenotype
  • increased foam cell number (MGI Ref ID J:82961)
    • lesions with foam cell accumulations are seen in coronary arteries

LdlrHlb301/LdlrHlb301

        C57BL/6J-LdlrHlb301/J
  • homeostasis/metabolism phenotype
  • *normal* homeostasis/metabolism phenotype (MGI Ref ID J:82961)
    • mice with this mutation do not develop xanthomas when fed a high fat, high cholesterol diet
    • mice with this mutation do not become obese when fed a high fat, high cholesterol diet
    • increased circulating cholesterol level (MGI Ref ID J:82961)
      • on a chow diet, 14 week old homozygous mutant mice exhibit significantly higher total cholesterol levels than either heterozygous mutants or control C57BL/6J mice
      • after 5 weeks on a high fat, high cholesterol diet, 14 week old homozygous mutant mice exhibit dramatically elevated levels of total serum cholesterol
      • increased circulating HDL cholesterol level (MGI Ref ID J:82961)
        • on a chow diet, 14 week old homozygous mutant mice exhibit significantly higher HDL cholesterol levels than either heterozygous mutants or control C57BL/6J mice
        • after 5 weeks on a high fat, high cholesterol diet, 14 week old homozygous mutant mice exhibit greatly elevated HDL cholesterol levels
    • increased foam cell number (MGI Ref ID J:82961)
      • lesions with foam cell accumulations are seen in coronary arteries
  • cardiovascular system phenotype
  • increased susceptibility to atherosclerosis (MGI Ref ID J:82961)
    • all mice with this mutation fed an atherogenic diet for 5 weeks develop severe aortic atherosclerosis with collagen deposition, atherosclerosis of the pulmonary arteries, and incipient lesions with foam cell accumulation in the coronary arteries
  • liver/biliary system phenotype
  • gallstones (MGI Ref ID J:82961)
    • 14 week old homozygous mutants fed a high fat, high cholesterol diet for 5 weeks have a 50% prevalence of cholesterol gallstones
  • vision/eye phenotype
  • retinal detachment (MGI Ref ID J:82961)
    • observed in some homozygotes
  • hematopoietic system phenotype
  • increased foam cell number (MGI Ref ID J:82961)
    • lesions with foam cell accumulations are seen in coronary arteries
  • immune system phenotype
  • increased foam cell number (MGI Ref ID J:82961)
    • lesions with foam cell accumulations are seen in coronary arteries

LdlrHlb301/?

        C57BL/6J
  • homeostasis/metabolism phenotype
  • increased circulating cholesterol level (MGI Ref ID J:82961)
    • the absolute value for total cholesterol (377 mg/dl) at 13 weeks of age, after consuming the antherogenic diet for > 5 weeks, is within normal range; however, this animal started out with a 4 hour fasted plasma total cholesterol of 88 mg/dl resulting in a 415% increase

Gene & Allele Details

Allele Symbol LdlrHlb301
Allele Name heart, lung and blood 301
Common Name(s) WHC; wicked high cholesterol;
Strain of OriginC57BL/6J
Gene Symbol and Name Ldlr, low density lipoprotein receptor
Chromosome 9
Gene Common Name(s) FH; FHC; LDLRA;
General Note Schmidt and Kostner (Atherosclerosis 148(2):431-432, 1999) identified the same mutation in an Austrian patient with Familial Hypercholesterolemia (FH): a G-to-A transition at nucleotide 2093 of the human LDLR coding sequence, resulting in replacement of cysteine with tyrosine at amino acid 677 (count does not include 21-aa signal peptide).
Molecular Note This phenotypic mutation was identified in a screen of the progeny of ENU treated male mice for serum cholesterol elevation in response to a high fat, high cholesterol diet. It is a G to A transition at nucleotide 2096 of the mouse cDNA sequence, in a region encoded by exon 14, resulting in replacement of a highly conserved cysteine by tyrosine at amino acid 699 (C699Y; count includes 21-aa signal peptide), which is predicted to cause a folding defect and failure of the protein to transit from the endoplasmic reticulum to the Golgi system.

Related Strains

View Strains carrying other alleles of Ldlr     (12 strains)

Research Applications

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

LdlrHlb301 related

Cardiovascular Research
Hypercholesterolemia

References

Additional References

Price and Supply Information

Strain Name: C57BL/6J-LdlrHlb301/J
Stock Number: 005061

Price Details

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Supply Details

Standard SupplyRepository-Cryopreserved. Must Be Recovered. Please refer to the Supply Notes for further information.
Supply Notes Cryopreserved Embryos
This strain is also available as cryopreserved embryos from our Repository. Orders for cryopreserved embryos are supplied subject to a signed agreement that must be returned to the Customer Service Department after order placement. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos from our repository, please visit our Cryopreserved Embryos web page.
Cryorecovery of Strains Needing Progeny Testing.
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 untested males and two untested females (two pairs) will be recovered, 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 overall recovery time to approximately 25 weeks. However, all pups recovered will be sent.

Progeny testing is required to identify the genotype of mice of this strain, as a genotyping assay is not available. This type of testing involves breeding the recovered animals and assessing the phenotype of the offspring in order to identify animals carrying the mutation of interest. We can perform the progeny testing for you as a service or we can ship all recovered animals (at least two untested pairs) to you for progeny testing at your facility. If you perform the progeny testing, there is NO guarantee that a carrier will be identified. If we perform progeny testing as a service, additional breeding time will be required. In this case, when a male and female (one pair) are identified that carry the mutation, they and their offspring will be shipped. Delivery time for strains requiring progeny testing often exceeds 25 weeks and may take 12 months or more due to the difficulties in breeding some strains. The progeny testing cost is in addition to the recovery cost and is based on the number of boxes used and the time taken to produce the mice identified as carrying the mutation. Please note that identified 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. Please contact Customer Service for more information on the cost of progeny testing for a strain: Tel: 1-800-422-6423 or 1-207-288-5845.

Cryorecovery to establish a Dedicated Supply for greater quantities of mice
One to two pairs will be recovered to establish a Dedicated Supply of mice. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services: Tel: 1-800-422-6423 or 1-207-288-5845; Email: jaxservices@jax.org.
This strain is included in the Mouse Heart, Lung, Blood and Sleep Disorders Center collection.

LicensingSee General Terms and Conditions below  

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.
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