Overview

This Cep110 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

Cntrl^b2b1468.1Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Cntrl	centriolin

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Research Applications

Internal/Organ Research
Developmental Biology 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 1886 of the Cep110 (centrosomal protein 110) 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 double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), ventricular septal defects (VSD), and hypoplastic right heart syndrome. Cystic kidney and hydronephrosis are also seen. This strain may be useful as a model of nephronophthisis, Meckel Gruber Syndrome, or Hypoplastic Right Heart Syndrome (HRHS).

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 1886 of the cDNA (c.T1886C, NM_012018) was discovered through whole exome, high throughput sequencing. This mutation is predicted to cause isoleucine to threonine amino acid substitution at position 1629 of the encoded protein (p.I1629T).

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

Cntrl^b2b1468.1Clo

Allele Symbol: Cntrl^b2b1468.1Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 1468, subline 1 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Cep110^b2b1468.1Clo; Hunchback

Gene Symbol and Name

Cntrl, centriolin

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

2

General Note

Summative Diagnosis:
Cardiovascular phenotypes: Double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), ventricular septal defects (VSD)

Noncardiovascular phenotype: Cystic kidney, tubular dilations, hydroureter, and hydronephrosis

Phenotypic Similarity to Human Syndrome:
Nephronophthisis

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 Codes	Code Description
600	Double outlet right ventricle
1300	Ventricular septal defect
1821	Hypoplastic right ventricle (subnormal cavity volume)
2050	Atrial septal defect
4502	Hydronephrosis
4508	Polycystic kidney disease

Molecular Note

This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b1468Clo. The molecular lesion for this subline is a T to C substitution at coding nucleotide 1886 in exon 13 (c.1886T>C, NM_012018). This changes the isoleucine residue to threonine at position 629 in the encoded protein (p.I629T).

Disease/Phenotype

Disease Terms

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

nephronophthisis

Research Areas By Phenotype

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

Internal/Organ Research
- Heart Abnormalities
- Kidney Defects
  - polycystic kidney disease
  - nephronophthisis/medullary cystic disease model
Developmental Biology Research
- Internal/Organ Defects
  - heart: vasculature
  - kidney
  - heart
Cardiovascular Research
- Vascular Defects
- Heart Abnormalities
  - cardiomyopathy

Mammalian Phenotype Terms by Genotype

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

Genotype: Cntrl^b2b1468.1Clo/Cntrl^b2b1468.1Clo
C57BL/6J-Cntrl

renal/urinary system phenotype

kidney cysts

hydroureter

polycystic kidney

hydronephrosis

dilated kidney collecting duct

vision/eye phenotype

microphthalmia

cardiovascular system phenotype

heart right ventricle hypoplasia

tricuspid valve stenosis

ventricular septal defect

atrial septal defect

pulmonary artery stenosis

double outlet right ventricle

growth/size/body region phenotype

decreased fetal size

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 - Cntrl^b2b1468.1Clo 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-Cntrl^b2b1468.1Clo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #013693 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-Cntrl<b2b1468.1Clo>/J	$2595.00
Frozen Mouse Embryo	C57BL/6J-Cntrl<b2b1468.1Clo>/J	$2595.00
Frozen Mouse Embryo	C57BL/6J-Cntrl<b2b1468.1Clo>/J	$3373.50
Frozen Mouse Embryo	C57BL/6J-Cntrl<b2b1468.1Clo>/J	$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

Cntrlb2b1468.1Clo

Allele Symbol: Cntrlb2b1468.1Clo

Disease Terms

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: Cntrlb2b1468.1Clo/Cntrlb2b1468.1CloC57BL/6J-Cntrl

renal/urinary system phenotype

vision/eye phenotype

cardiovascular system phenotype

growth/size/body region phenotype

References

Additional - Cntrlb2b1468.1Clo 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

Cntrl^b2b1468.1Clo

Allele Symbol: Cntrl^b2b1468.1Clo

Genotype: Cntrl^b2b1468.1Clo/Cntrl^b2b1468.1Clo
C57BL/6J-Cntrl

Additional - Cntrl^b2b1468.1Clo related