Overview

This Ift74 mutation was identified in a screen of ENU-induced mutations and may be useful in studies of congenital heart disease.

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

Ift74^b2b796Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Ift74	intraflagellar transport 74

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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 T-to-C point mutation at position 1645 of the Ift74 (intraflagellar transport 74) cDNA 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 described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.

Homozygotes demonstrate heterotaxy syndrome (ambiguous lung lobation) with congenital heart disease (double outlet right ventricle (DORV), atrial-ventricular septal defect (AVSD) and dual inferior vena cava (IVC)).

Development

This ENU-induced mutation was created and maintained on a C57BL/6J genetic background by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program. A T-to-C single point mutation at position 1645 of the cDNA (c.T1645C, NM_026319) was discovered through whole exome, high throughput sequencing. This mutation is predicted to cause a tryptophan to arginine amino acid substitution at position 549 of the encoded protein (p.W549R).

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

Ift74^b2b796Clo

Allele Symbol: Ift74^b2b796Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 796 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Princess Leia

Gene Symbol and Name

Ift74, intraflagellar transport 74

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

4

General Note

Summative Diagnosis:
Cardiovascular phenotype: Heterotaxy syndrome (ambiguous lung lobation) with congenital heart disease: Double outlet right ventricle (DORV), atrial-ventricular septal defect (AVSD) and dual inferior vena cava (IVC)

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
0606	DORV + AVSD (AV canal)
1100	Atrioventricular canal (endocardial cushion defect)
1140	Common atrium
2810	Inferior vena cava anomaly
3804	Congenital heart disease
4235	Pulmonary malformation

Molecular Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substitution at coding nucleotide 1645 in exon 19 of the cDNA (c.1645T>C, NM_026319). This changes the tryptophan residue to arginine at position 549 of the encoded protein (p.W549R).

Disease/Phenotype

Disease Terms

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
  - heart
  - 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: Ift74^b2b796Clo/Ift74^b2b796Clo
C57BL/6J-Ift74

cardiovascular system phenotype

abnormal inferior vena cava morphology
- dual inferior vena cavae (IVC)

atrioventricular septal defect

common atrium

double outlet right ventricle

double outlet right ventricle with atrioventricular septal defect

growth/size/body region phenotype

heterotaxia

respiratory system phenotype

abnormal lung lobe morphology
- ambiguous lung lobation

abnormal respiratory system morphology

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 - Ift74^b2b796Clo 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-Ift74^b2b796/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #018222 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-Ift74<b2b796>/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-Ift74<b2b796>/J Frozen Embryo	$2595.00
Frozen Mouse Embryo	C57BL/6J-Ift74<b2b796>/J Frozen Embryo	$3373.50
Frozen Mouse Embryo	C57BL/6J-Ift74<b2b796>/J Frozen Embryo	$3373.50

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.

Terms Of Use

General Terms and Conditions

Questions about Terms of Use

Licensing Information

Phone: 207-288-6470

Email: TechTran@jax.org

Donating Investigator

Genetic overview

Research Applications

Base Price

Detailed Description

Development

Selected References

Ift74b2b796Clo

Allele Symbol: Ift74b2b796Clo

Disease Terms

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: Ift74b2b796Clo/Ift74b2b796CloC57BL/6J-Ift74

cardiovascular system phenotype

growth/size/body region phenotype

respiratory system phenotype

References

Additional - Ift74b2b796Clo 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

Ift74^b2b796Clo

Allele Symbol: Ift74^b2b796Clo

Genotype: Ift74^b2b796Clo/Ift74^b2b796Clo
C57BL/6J-Ift74

Additional - Ift74^b2b796Clo related