Overview

This Cep290 mutation was identified in a screen of ENU-induced mutations and may be useful in studies of heterotaxy, congenital heart disease, and polycystic kidney 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

Cep290^b2b1454Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Cep290	centrosomal protein 290

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Research Applications

Developmental Biology Research
Cardiovascular Research
Internal/Organ Research
Endocrine Deficiency 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-A point mutation at position 4670 of the Cep290 (centrosomal protein 290) 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 congenital heart disease associated with heterotaxy such as doublet outlet right ventricle, atrioventricular septal defect, duplicated inferior vena cava (IVC), and hypoplastic spleen/polysplenia. Cystic kidney with tubular and glomerular cysts, open eyes, and micrognathia are also seen.

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-A single point mutation at position 4670 of the cDNA (c.T4670A, NM_146009) was discovered through whole exome, high throughput sequencing. This mutation is predicted to cause a leucine to stop codon substitution at position 1557 of the encoded protein (p.L1557X).

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

Cep290^b2b1454Clo

Allele Symbol: Cep290^b2b1454Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC), mutation 1454 Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Cep290^c.T4670A; Checkers

Gene Symbol and Name

Cep290, centrosomal protein 290

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

10

General Note

Summative Diagnosis:
Cardiac phenotype: Congenital heart disease associated with heterotaxy such as doublet outlet right ventricle, atrioventricular septal defect, duplicated inferior vena cava (IVC), and hypoplastic spleen/polysplenia
Noncardiac phenotype: Cystic kidney tubular and glomerular cysts. Open eyes, micrognathia
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
0192	Polysplenia syndrome (left isomerism)
0600	Double outlet right ventricle
1100	Atrioventricular canal (endocardial cushion defect)
1340	Ventricular septal defect, ECD type
2810	Inferior vena cava anomaly
3804	Congenital heart disease
3983	{A,D,D}
4163	Micrognathia
4508	Polycystic kidney disease

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 4670 in exon 34 of the cDNA (c.4670T>A, NM_146009). This changes the leucine residue to a translation stop at position 1557 of the encoded protein (p.L1557*).

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

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

cystic kidney disease

Research Areas By Phenotype

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

Developmental Biology Research
- Internal/Organ Defects
  - kidney
  - heart
  - heart: vasculature
  - spleen: GI
- Skeletal Defects
  - teeth
Cardiovascular Research
- Heart Abnormalities
  - cardiomyopathy
- Vascular Defects
Internal/Organ Research
- Skeleton
  - teeth
- Heart Abnormalities
- Kidney Defects
  - polycystic kidney disease
- Spleen Defects
Endocrine Deficiency Research
- Spleen Defects

Mammalian Phenotype Terms by Genotype

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

Genotype: Cep290^b2b1454Clo/Cep290^b2b1454Clo
C57BL/6J-Cep290

hematopoietic system phenotype

accessory spleen

spleen hypoplasia

immune system phenotype

accessory spleen

spleen hypoplasia

renal/urinary system phenotype

polycystic kidney

kidney cyst
- tubular and glomerular cysts

renal glomerulus cyst

skeleton phenotype

micrognathia

cardiovascular system phenotype

double outlet right ventricle

inlet ventricular septal defect

abnormal inferior vena cava morphology

dual inferior vena cava

atrioventricular septal defect

craniofacial phenotype

micrognathia

growth/size/body region phenotype

kidney cyst
- tubular and glomerular cysts

heterotaxia

left-sided isomerism

renal glomerulus cyst

polycystic kidney

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 - Cep290^b2b1454Clo 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-Cep290^b2b1454Clo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #018204 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-Cep290<b2b1454Clo>/J Frozen Embryo	$2595.00
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Frozen Mouse Embryo	C57BL/6J-Cep290<b2b1454Clo>/J Frozen Embryo	$3373.50
Frozen Mouse Embryo	C57BL/6J-Cep290<b2b1454Clo>/J Frozen Embryo	$3373.50

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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

Cep290b2b1454Clo

Allele Symbol: Cep290b2b1454Clo

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).

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: Cep290b2b1454Clo/Cep290b2b1454CloC57BL/6J-Cep290

hematopoietic system phenotype

immune system phenotype

renal/urinary system phenotype

skeleton phenotype

cardiovascular system phenotype

craniofacial phenotype

growth/size/body region phenotype

References

Additional - Cep290b2b1454Clo 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

Cep290^b2b1454Clo

Allele Symbol: Cep290^b2b1454Clo

Genotype: Cep290^b2b1454Clo/Cep290^b2b1454Clo
C57BL/6J-Cep290

Additional - Cep290^b2b1454Clo related