Overview

This A3641T Megf8 (multiple EGF-like-domains 8) point mutation was identified in a screen of ENU-induced mutations and may be useful in studies of congenital heart disease and 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

Megf8^b2b288Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Megf8	multiple EGF-like-domains 8

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Research Applications

Developmental Biology Research
Internal/Organ Research
Cardiovascular Research

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Base Price

Starting at:

$2,854.50 Domestic price Cryo Recovery

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Details

Detailed Description

This A3641T Megf8 (multiple EGF-like-domains 8) point 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 a double outlet right ventricle (DORV), transposition of great arteries, dextrocardia, and complete atroventricular septal defect (AVSD). Heterotaxia is 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. An A3641T (Ref seq NM_001160400) point mutation in Megf8 cDNA was discovered through whole exome, high throughput sequencing. This is predicted to alter an arginine residue to an isoleucine at position 1214 (N1214I) in the encoded protein.

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

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Genetics

Megf8^b2b288Clo

Allele Symbol: Megf8^b2b288Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 288 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

M8; Megf8^c.A3641T

Gene Symbol and Name

Megf8, multiple EGF-like-domains 8

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

7

General Note

Summative Diagnosis:
Cardiovascular defects: Hetertoaxy with complex congenital heart disease such as transposition of the great arteries (TGA;{SDD}) and dextrocardia with double outlet right ventricle (DORV;{ILL}).
Non-cardiac phenotype: Anopthalmia, short snout, micrognathia, Cleft palate

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
0190	Heterotaxy syndrome
0602	DORV, ventricular defect committed to aorta
0700	D-loop transposition of the great arteries
1120	Complete common atrioventricular canal
3804	Congenital heart disease
3950	{S,D,D}
3973	{I,L,L}
4846	Carpenter syndrome

Molecular Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh.The causitive molecular lesion for the cardiovascular phenotypes is an A to T substitution at coding nucleotide 3641 in exon 21 of the cDNA (c.3641A>T, NM_001160400). This changes the asparagine residue to isoleucine at position 1214 in the encoded protein (p.N1214I).

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).

Carpenter syndrome

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

Research Areas By Phenotype

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

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

Mammalian Phenotype Terms by Genotype

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

Genotype: Megf8^b2b288Clo/Megf8^b2b288Clo
C57BL/6J-Megf8

cardiovascular system phenotype

complete atrioventricular septal defect
- Complete common atrioventricular canal

dextrocardia

d-loop transposition of the great arteries
- (TGA;{SDD})

double outlet right ventricle, ventricular defect committed to aorta
- (DORV;{ILL})

skeleton phenotype

micrognathia

vision/eye phenotype

anophthalmia

craniofacial phenotype

cleft palate

micrognathia

short snout

digestive/alimentary phenotype

cleft palate

growth/size/body region phenotype

cleft palate

heterotaxia

short snout

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 - Megf8^b2b288Clo related

Technical Support

CONTACT TECHNICAL SUPPORT

Genotyping Protocols
- Genotyping resources and troubleshooting
Breeding Considerations

Heterozygotes are viable and fertile.
- Additional Breeding and Husbandry Support
Citation
When using the C57BL/6J-Megf8^b2b288Clo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #013617 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

Payment Terms and Conditions

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.

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. 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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Licensing Information

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Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Selected References

Megf8b2b288Clo

Allele Symbol: Megf8b2b288Clo

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).

Research Areas By Phenotype

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

Mammalian Phenotype Terms by Genotype

Genotype: Megf8b2b288Clo/Megf8b2b288CloC57BL/6J-Megf8

cardiovascular system phenotype

skeleton phenotype

vision/eye phenotype

craniofacial phenotype

digestive/alimentary phenotype

growth/size/body region phenotype

References

Additional - Megf8b2b288Clo 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

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

Megf8^b2b288Clo

Allele Symbol: Megf8^b2b288Clo

Genotype: Megf8^b2b288Clo/Megf8^b2b288Clo
C57BL/6J-Megf8

Additional - Megf8^b2b288Clo related