Overview

This 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.

Donating Investigator

Cecilia Lo, Univ of Pittsburgh School of Medicine

Genetic overview

Genetic Background	Generation

Armc4^b2b643Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Armc4	armadillo repeat containing 4

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Research Applications

Internal/Organ Research
Developmental Biology Research
Cell Biology Research
Cardiovascular Research

View All Research Applications

Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

This 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 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.

Selected References

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

View All References

Genetics

Armc4^b2b643Clo

Allele Symbol: Armc4^b2b643Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 643 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Aotea

Gene Symbol and Name

Armc4, armadillo repeat containing 4

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

18

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

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
0100	Situs inversus totalis
0110	Dextrocardia
0190	Heterotaxy syndrome
0602	DORV, ventricular defect committed to aorta
1300	Ventricular septal defect
1310	Ventricular septal defect, membranous
1320	Ventricular septal defect, muscular
2700	Abnormal aortic arch
2720	Right aortic arch
2810	Inferior vena cava anomaly
3804	Congenital heart disease
3817	Abdominal situs ambiguous (abdominal heterotaxy)
3974	{I,L,I}
4100	Skeletal, skin, muscle anomaly
4238	Bronchial isomerism
4851	Kartagener 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 substitution at coding nucleotide 2978 in exon 20 of the cDNA (c.2978T>A, NM_001081393). This changes the methionine residue to lysine at position 993 of the encoded protein (p.M993K).

Disease/Phenotype

Disease Terms

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).

primary ciliary dyskinesia 23

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).

visceral heterotaxy

Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.

Kartagener syndrome

Research Areas By Phenotype

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

Internal/Organ Research
- Heart Abnormalities
Developmental Biology Research
- Internal/Organ Defects
  - heart
  - heart: vasculature
  - situs inversus
- Cell Motility Defects
  - situs inversus
Cell Biology Research
- Cell Motility Defects
Cardiovascular Research
- Heart Abnormalities
- Vascular Defects

Mammalian Phenotype Terms by Genotype

The following phenotype relates to a compound genotype created using this strain

Genotype: Armc4^b2b643Clo/Armc4^b2b643Clo
C57BL/6J-Armc4

cardiovascular system phenotype

abnormal blood vessel physiology
- anomalous venous return

abnormal heart ventricle morphology
- ventricular noncompaction

dextrocardia
- mirror image dextocardia

double outlet right ventricle, ventricular defect committed to aorta

dual inferior vena cava

muscular ventricular septal defect

perimembraneous ventricular septal defect

right aortic arch

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

abnormal respiratory motile cilium physiology
- dyskinetic, slow or immotile airway cilia

immotile respiratory cilia

growth/size/body region phenotype

abdominal situs ambiguus
- about half of mutants with abnormal organ laterality have heterotaxy

heterotaxia

situs inversus totalis
- about half of mutants with abnormal organ laterality have situs inversus

mortality/aging

premature death
- mutants succumb prior to reaching reproductive age

nervous system phenotype

hydrocephaly
- mutants develop hydrocephalus at 3-4 weeks of age, but not during the first week of life

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

abnormal respiratory motile cilium physiology
- dyskinetic, slow or immotile airway cilia

immotile respiratory cilia

References

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

Additional - Armc4^b2b643Clo related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Breeding Considerations

Heterozygotes are both viable and fertile.
- Additional Breeding and Husbandry Support
Citation
When using the C57BL/6J-Armc4^b2b643Clo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #013673 in your Materials and Methods section.

Animal Health Reports

Facility Barrier Level Descriptions

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

Pricing & Availability

Cryo Recovery

Domestic
International

Live Mouse

Age

Genotype

Price

weeks

Cryorecovery - Pricing

Service/Product	Description	Price
	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

Related Products and Services

Frozen Mouse Embryo	C57BL/6J-Armc4<b2b643Clo>/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-Armc4<b2b643Clo>/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-Armc4<b2b643Clo>/J Frozen Embryo	$3373.50
Frozen Mouse Embryo	C57BL/6J-Armc4<b2b643Clo>/J Frozen Embryo	$3373.50

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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. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.

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Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Selected References

Armc4b2b643Clo

Allele Symbol: Armc4b2b643Clo

Disease Terms

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).

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).

Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

Genotype: Armc4b2b643Clo/Armc4b2b643CloC57BL/6J-Armc4

cardiovascular system phenotype

cellular phenotype

growth/size/body region phenotype

mortality/aging

nervous system phenotype

respiratory system phenotype

References

Additional - Armc4b2b643Clo related

Genotyping Protocols

Breeding Considerations

Citation

Animal Health Reports

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

Live Mouse

Cryorecovery - Pricing

Related Products and Services

Payment Terms and Conditions

The Jackson Laboratory's Genotype Promise

Terms Of Use

Licensing Information

JAX® Mice, Products & Services Conditions of Use

No Warranty

Credit for PRODUCTS or SERVICES

Animal Care and Use for SERVICES

No Liability

Armc4^b2b643Clo

Allele Symbol: Armc4^b2b643Clo

Genotype: Armc4^b2b643Clo/Armc4^b2b643Clo
C57BL/6J-Armc4

Additional - Armc4^b2b643Clo related