Strain Name:

C57BL/6J-Armc4b2b643Clo/J

Stock Number:

013673

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Availability:

Cryopreserved - Ready for recovery

This undefined mutation was identified in a screen of ENU-induced mutations and may be useful in studies of congenital heart disease and lung development.

The Jackson Laboratory cannot guarantee that cryorecovery of G1 sperm from the Bench to Bassinet (B2B) collection will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.

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 C57BL/6J-b2b643Clo/J    (Changed: 23-APR-13 )
Type Chemically Induced Mutation; Coisogenic; Mutant Strain;
Additional information on Genetically Engineered and Mutant Mice.
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Specieslaboratory mouse
 
Donating Investigator Cecilia Lo,   Univ of Pittsburgh School of Medicine

Description
This undefined mutation was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.

Homozygotes demonstrate cardiovascular defects that involve situs inversus totalis, heterotaxy with congenital heart disease, double outlet right ventricle (DORV) and perimembranous ventricular septal defect (VSD). Dyskinetic, slow, or immotile airway cilia are also seen.

Development
This undefined mutation, identified in an ENU screen for recessive cardiovascular development phenotypes, was created and maintained on a C57BL/6J genetic background by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program.

Related Strains

Strains carrying other alleles of Armc4
013646   C57BL/6J-b2b227Clo/J
View Strains carrying other alleles of Armc4     (1 strain)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- 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).
Ciliary Dyskinesia, Primary, 1; CILD1
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Armc4b2b643Clo/Armc4b2b643Clo

        C57BL/6J-Armc4b2b643Clo
  • cardiovascular system phenotype
  • abnormal blood vessel physiology
    • anomalous venous return   (MGI Ref ID J:206685)
  • abnormal heart ventricle morphology
    • ventricular noncompaction   (MGI Ref ID J:206685)
    • muscular ventricular septal defect   (MGI Ref ID J:206685)
    • perimembraneous ventricular septal defect   (MGI Ref ID J:175213)
  • dextrocardia
    • mirror image dextocardia   (MGI Ref ID J:206685)
  • double outlet right ventricle, ventricular defect committed to aorta   (MGI Ref ID J:175213)
  • dual inferior vena cava   (MGI Ref ID J:206685)
  • right aortic arch   (MGI Ref ID J:175213)
  • growth/size/body phenotype
  • heterotaxia   (MGI Ref ID J:175213)
    • abdominal situs ambiguus   (MGI Ref ID J:175213)
      • about half of mutants with abnormal organ laterality have heterotaxy   (MGI Ref ID J:206685)
    • situs inversus totalis   (MGI Ref ID J:175213)
      • about half of mutants with abnormal organ laterality have situs inversus   (MGI Ref ID J:206685)
  • respiratory system phenotype
  • abnormal respiratory motile cilium morphology
    • tracheal airway cilia exhibit a reduction in outer dynein arms resulting from a defect of outer dynein arm assembly in the distal ciliary axonemes   (MGI Ref ID J:206685)
  • abnormal respiratory motile cilium physiology   (MGI Ref ID J:206685)
    • dyskinetic, slow or immotile airway cilia   (MGI Ref ID J:175213)
    • immotile respiratory cilia   (MGI Ref ID J:206685)
  • nervous system phenotype
  • hydroencephaly
    • mutants develop hydrocephalus at 3-4 weeks of age, but not during the first week of life   (MGI Ref ID J:206685)
  • mortality/aging
  • premature death
    • mutants succumb prior to reaching reproductive age   (MGI Ref ID J:206685)
  • cellular phenotype
  • abnormal respiratory motile cilium morphology
    • tracheal airway cilia exhibit a reduction in outer dynein arms resulting from a defect of outer dynein arm assembly in the distal ciliary axonemes   (MGI Ref ID J:206685)
  • abnormal respiratory motile cilium physiology   (MGI Ref ID J:206685)
    • dyskinetic, slow or immotile airway cilia   (MGI Ref ID J:175213)
    • immotile respiratory cilia   (MGI Ref ID J:206685)
View Research Applications

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

Cardiovascular Research
Heart Abnormalities
Vascular Defects

Cell Biology Research
Cell Motility Defects

Developmental Biology Research
Cell Motility Defects
      situs inversus
Internal/Organ Defects
      heart
      heart: vasculature
      situs inversus

Internal/Organ Research
Heart Abnormalities

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Armc4b2b643Clo
Allele Name Bench to Bassinet Program (B2B/CVDC), mutation 643 Cecilia Lo
Allele Type Chemically induced (ENU)
Common Name(s) Aotea;
Strain of OriginC57BL/6J
Gene Symbol and Name Armc4, armadillo repeat containing 4
Chromosome 18
Gene Common Name(s) 4930463I21Rik; CILD23; Mutant line 227.1; Mutant line 643; RIKEN cDNA 4930463I21 gene; b2b227.1Clo; b2b643Clo; ddx5-ps1;
General Note Summative Diagnosis:
Cardiovascular phenotype: Dextrocardia and congenital heart disease associated with situs inversus totalis and heterotaxy, such as double outlet right ventricle (DORV), ventricular septal defects (VSD), right aortic arch(RAA), dual inferior vena cava (IVC)
Noncardiovascular phenotype: Abnormal thoracic and abdominal organ situs anomalies, such as dextrogastria, pulmonary isomerism, and malaligned sternal vertebra. Airway cilia were dyskinetic, slow, or immotile

Phenotypic Similarity to Human Syndrome: Heterotaxy, Primary Ciliary Dyskinesia (PCD), Kartagener syndrome

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Code ID Code Description
0100Situs inversus totalis
0110Dextrocardia
0190Heterotaxy syndrome
0602DORV, ventricular defect committed to aorta
1300Ventricular septal defect
1310Ventricular septal defect, membranous
1320Ventricular septal defect, muscular
2700Abnormal aortic arch
2720Right aortic arch
2810Inferior vena cava anomaly
3804Congenital heart disease
3817Abdominal situs ambiguous (abdominal heterotaxy)
3974{I,L,I}
4100Skeletal, skin, muscle anomaly
4238Bronchial isomerism
4851Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)

Molecular Note This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T-to-A single point mutation at position 2978 of the cDNA (c.T2978A, NM_001081393) that is predicted to cause a methionine to lysine amino acid substitution at position 993 of the encoded protein (p.M993K). [MGI Ref ID J:175213]

Genotyping

Genotyping Information


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Lo C. 2011. Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program MGI Direct Data Submission (B2B/CvDC) :.  [MGI Ref ID J:175213]

Additional References

Armc4b2b643Clo related

Hjeij R; Lindstrand A; Francis R; Zariwala MA; Liu X; Li Y; Damerla R; Dougherty GW; Abouhamed M; Olbrich H; Loges NT; Pennekamp P; Davis EE; Carvalho CM; Pehlivan D; Werner C; Raidt J; Kohler G; Haffner K; Reyes-Mugica M; Lupski JR; Leigh MW; Rosenfeld M; Morgan LC; Knowles MR; Lo CW; Katsanis N; Omran H. 2013. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet 93(2):357-67. [PubMed: 23849778]  [MGI Ref ID J:206685]

Health & husbandry

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.

Health & Colony Maintenance Information

Animal Health Reports

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

Colony Maintenance

Breeding & HusbandryHeterozygotes are both viable and fertile.

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

  • The Jackson Laboratory cannot guarantee that cryorecovery of G1 sperm from the Bench to Bassinet (B2B) collection will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.
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

  • The Jackson Laboratory cannot guarantee that cryorecovery of G1 sperm from the Bench to Bassinet (B2B) collection will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.
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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