Strain Name:

STOCK Dnah5hlb612/JClo

Stock Number:

007863

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Availability:

Cryopreserved - Ready for recovery

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 STOCK Dnahc5hlb612/JClo    (Changed: 23-MAY-13 )
Type Chemically Induced Mutation; Mutant Stock;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Specieslaboratory mouse
GenerationN4F2pN1
Generation Definitions

Description
The ENU generated hlb612 allele contains an in-frame deletion in a dynein gene (Dnahc5) commonly associated with human primary ciliary dyskinesia (PCD). Thirty-six percent of homozygotes exhibit situs inversus totalis and hydrocephaly and die between 2-4 weeks of age. Forty percent of homozygotes die before or shortly after birth and exhibit heterotaxy with structural heart defects and cardiovascular anomalies including discordant atrioventricular and ventricular outflow situs, atrial/pulmonary isomerisms, artery alignment defects, interrupted inferior vena cava and dextrocardia. Electronmicroscopy reveals that the outer dynein arms of the respiratory cilia are greatly reduced in number. Respiratory cilia exhibit a wide variation in orientation. Cilia in the airway epithelia are immotile or slow and dsykinetic. Heterozygous mice do not have situs defects, however, respiratory cilia exhibit some reduction in the number of outer dynein arms. This strain may be useful for studying left-right asymmetry and as a mouse model for primary ciliary dyskinesia.

Development
This phenotypic deviant was identified following multidose ethylnitrosourea (ENU) treatments to induce mutations in male founder C57BL/6J mice (Stock No. 000664), in complex heart, lung, blood, and sleep disorders at the Mouse Heart, Lung, Blood, and Sleep Disorders (HLBS) Center at The Jackson Laboratory. G2 mice were transferred to the laboratory of Cecilia Lo at the NIH where the strain was backcrossed twice to C57BL/6J, three times to C3H/HeJ and two times to the consomic C57BL/6J-Chr 15A/J/NaJ. The mutation was determined to be a 29.7Kb deletion spanning exons 7 to 17 of the Dnahc5 gene on chromosome 15. The deletion removed 593 amino acids from a region containing most of the heavy chain dynein interacting domain N1. Two males from the colony were transferred back to The Jackson Laboratory for sperm cryopreservation in 2008.

Related Strains

View Strains carrying other alleles of Dnah5     (7 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Ciliary Dyskinesia, Primary, 3; CILD3
- Model with phenotypic similarity to human disease where etiologies are distinct. Human genes are associated with this disease. Orthologs of these genes do not appear in the mouse genotype(s).
Tetralogy of Fallot; TOF
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.

Dnah5hlb612/Dnah5+

        involves: C57BL/6J
  • respiratory system phenotype
  • abnormal respiratory motile cilium morphology
    • mice exhibit reduced numbers of outer dynein arms in their tracheal cilia compared to in wild-type mice   (MGI Ref ID J:130755)
  • cellular phenotype
  • abnormal respiratory motile cilium morphology
    • mice exhibit reduced numbers of outer dynein arms in their tracheal cilia compared to in wild-type mice   (MGI Ref ID J:130755)

Dnah5hlb612/Dnah5hlb612

        involves: C57BL/6J
  • mortality/aging
  • complete lethality at weaning
    • mice that survive birth die between 3 and 4 weeks of age with normal or reversed body situs and domed heads indicative of hydrocephaly   (MGI Ref ID J:130755)
  • partial perinatal lethality
    • mice with heterotaxia exhibit heart defects and die before or shortly after birth   (MGI Ref ID J:130755)
  • growth/size/body phenotype
  • abnormal head morphology
    • mice that survive birth die between 3 and 4 weeks of age with domed heads indicative of hydrocephaly   (MGI Ref ID J:130755)
  • heterotaxia
    • 40% of mice exhibit heterotaxia, 36% situs invertus and 24% situs solitus   (MGI Ref ID J:130755)
    • mice with heterotaxia exhibit heart defects and die before or shortly after birth   (MGI Ref ID J:130755)
    • left atrial isomerism
    • left pulmonary isomerism
      • mice exhibit varying degrees of lung and bronchial tree left isomerism   (MGI Ref ID J:130755)
    • right atrial isomerism
    • situs inversus
      • 36% of mice exhibit situs inversus   (MGI Ref ID J:130755)
  • cardiovascular system phenotype
  • abnormal aortic arch morphology
    • interrupted aortic arch
  • abnormal heart morphology
    • mice exhibit a range of cardiac defects at varying degrees of penetrance including tetralogy of Fallot, transposition of the great arteries, a common atrioventricular canal, dextro- or meso-cardia, a common atrium, double outlet right ventricle, and septal defects   (MGI Ref ID J:130755)
    • abnormal heart development
      • some mice exhibit L ventricular loop with or without superior-inferior positioning of the ventricles   (MGI Ref ID J:130755)
      • some mice exhibit tetralogy of Fallot   (MGI Ref ID J:130755)
      • some mice exhibit a concordant vein and artery alignment in the great arteries   (MGI Ref ID J:130755)
    • atrioventricular septal defect
      • some mice exhibit a common or unbalanced atrioventricular canal committed to the right or left ventricle   (MGI Ref ID J:130755)
    • common atrioventricular valve
      • some mice exhibit a single atrioventricular valve of mitral morphology   (MGI Ref ID J:130755)
    • common atrium
      • some mice exhibit a common atrium   (MGI Ref ID J:130755)
    • dextrocardia
    • double outlet right ventricle
    • left atrial isomerism
    • mesocardia
    • ostium secundum atrial septal defect
      • some mice exhibit secundum atrial septal defects   (MGI Ref ID J:130755)
    • right atrial isomerism
    • superior-inferior ventricles
    • transposition of great arteries
    • ventricular septal defect
  • abnormal inferior vena cava morphology
    • inferior vena cava (IVC) abnormalities are observed in some mice including azygos continuation, interruption and duplication of the IVC   (MGI Ref ID J:130755)
  • respiratory system phenotype
  • abnormal respiratory motile cilium morphology
    • mice exhibit a wide range of tracheal cilia disorganization   (MGI Ref ID J:130755)
    • mice exhibit reduced numbers of outer dynein arms in their tracheal cilia compared to in wild-type mice   (MGI Ref ID J:130755)
  • abnormal respiratory motile cilium physiology
    • tracheal cilia are immotile or slow and dyskinetic   (MGI Ref ID J:130755)
    • displacement of fluorescent beads deposited above the epithelia is reduced in velocity and directionality compared to in wild-type mice   (MGI Ref ID J:130755)
  • left pulmonary isomerism
    • mice exhibit varying degrees of lung and bronchial tree left isomerism   (MGI Ref ID J:130755)
  • digestive/alimentary phenotype
  • abnormal digestive organ placement
    • in some mice the pancreas or the stomach are mal-positioned along the midline or the right side   (MGI Ref ID J:130755)
  • hematopoietic system phenotype
  • abnormal spleen morphology
    • in some mice the spleen is mal-positioned   (MGI Ref ID J:130755)
    • absent spleen
  • nervous system phenotype
  • hydroencephaly
    • mice that survive birth die between 3 and 4 weeks of age with domed heads indicative of hydrocephaly   (MGI Ref ID J:130755)
  • liver/biliary system phenotype
  • abnormal liver morphology
    • some mice exhibit a symmetric bilobed liver   (MGI Ref ID J:130755)
  • immune system phenotype
  • abnormal spleen morphology
    • in some mice the spleen is mal-positioned   (MGI Ref ID J:130755)
    • absent spleen
  • cellular phenotype
  • abnormal respiratory motile cilium morphology
    • mice exhibit a wide range of tracheal cilia disorganization   (MGI Ref ID J:130755)
    • mice exhibit reduced numbers of outer dynein arms in their tracheal cilia compared to in wild-type mice   (MGI Ref ID J:130755)
  • abnormal respiratory motile cilium physiology
    • tracheal cilia are immotile or slow and dyskinetic   (MGI Ref ID J:130755)
    • displacement of fluorescent beads deposited above the epithelia is reduced in velocity and directionality compared to in wild-type mice   (MGI Ref ID J:130755)
View Research Applications

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

Cardiovascular Research
Heart Abnormalities

Developmental Biology Research
Internal/Organ Defects
      heart
      lung
      situs inversus

Internal/Organ Research
Heart Abnormalities
Lung Defects

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Dnah5hlb612
Allele Name heart, lung and blood 612
Allele Type Chemically induced (ENU)
Common Name(s) Dnahc5del593; Mdnah5del267-859;
Strain of OriginC57BL/6J
Gene Symbol and Name Dnah5, dynein, axonemal, heavy chain 5
Chromosome 15
Gene Common Name(s) AU022615; CILD3; DNAHC5; Dnahc5; HL1; KTGNR; Mdnah5; Mutant line 1134; Mutant line 1154; Mutant line 1537; Mutant line 1565; PCD; b2b1134Clo; b2b1154Clo; b2b1537Clo; b2b1565Clo; expressed sequence AU022615;
Molecular Note 29,755 base pairs containing exons 7 through 17 were deleted by ENU mutgenesis. This resulted in a 593 amino acid deletion in the protein and deletion of the DHC_N1 domain. [MGI Ref ID J:130755]

Genotyping

Genotyping Information

Genotyping Protocols

Dnahc5hlb612, Separated PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Tan SY; Rosenthal J; Zhao XQ; Francis RJ; Chatterjee B; Sabol SL; Linask KL; Bracero L; Connelly PS; Daniels MP; Yu Q; Omran H; Leatherbury L; Lo CW. 2007. Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia. J Clin Invest 117(12):3742-52. [PubMed: 18037990]  [MGI Ref ID J:130755]

Additional References

Dnah5hlb612 related

Francis RJ; Chatterjee B; Loges NT; Zentgraf H; Omran H; Lo CW. 2009. Initiation and maturation of cilia-generated flow in newborn and postnatal mouse airway. Am J Physiol Lung Cell Mol Physiol 296(6):L1067-75. [PubMed: 19346437]  [MGI Ref ID J:164972]

Kim E; Tolhurst AT; Qin LY; Chen XY; Febbraio M; Cho S. 2008. CD36/fatty acid translocase, an inflammatory mediator, is involved in hyperlipidemia-induced exacerbation in ischemic brain injury. J Neurosci 28(18):4661-70. [PubMed: 18448643]  [MGI Ref ID J:134972]

Health & husbandry

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2140.00
Animals Provided

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.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We willfulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2782.00
Animals Provided

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.

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We willfulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

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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.
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