Overview

This Kif7 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

Kif7^b2b2254Clo

Allele Type	Gene Symbol	Gene Name
Chemically induced (ENU)	Kif7	kinesin family member 7

View Genetics

Research Applications

Developmental Biology Research
Internal/Organ 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 T-to-C point mutation at position 5503 of the Kif7 (kinesin family member 7) 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 overriding aorta, double outlet right ventricle (DORV), hypoplastic pulmonary artery (PA), ventricular septal defect (VSD), and atrioventricular septal defect (AVSD). Polydactyly with preaxial or postaxial digit duplication, abnormal lung lobation, abnormal gonad development, cleft lip and palate, micropthalmia/anopthalmia, hydrocephaly, and exencephaly 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 557 of the cDNA (c.T557A, NM_010626) was discovered through whole exome, high throughput sequencing. This mutation is predicted to cause a valine to glutamic acid amino acid substitution at position 186 of the encoded protein (p.V186E).

Control Suggestions

Wild-type from the colony

Additional Information

Considerations for Choosing Controls

Genetics

Kif7^b2b2254Clo

Allele Symbol: Kif7^b2b2254Clo

Allele Name

Bench to Bassinet Program (B2B/CVDC) mutation 2254, Cecilia Lo

Allele Type

Chemically induced (ENU)

Allele Synonym(s)

Rocco

Gene Symbol and Name

Kif7, kinesin family member 7

Gene Synonym(s)

Strain of Origin

C57BL/6J

Chromosome

7

General Note

Summative Diagnosis:
Cardiac Phenotype: Overriding aorta, double outlet right ventricle (DORV), hypoplastic pulmonary artery (PA), ventricular septal defect (VSD), and atrioventricular septal defect (AVSD)
Non-Cardiac Phenotype: Polydactyly with preaxial or postaxial digit duplication, abnormal lung lobation, abnormal gonad development, cleft lip and palate, micropthalmia/anopthalmia, hydrocephaly, exencephaly

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
0600	Double outlet right ventricle
1100	Atrioventricular canal (endocardial cushion defect)
1250	Interrupted aortic arch
1300	Ventricular septal defect
1432	Overriding aortic valve
2966	Hypoplastic main pulmonary artery
4103	Polydactyly
4174	Syndactyly
4401	Cleft palate and cleft lip
4864	Anophthalmia
4877	Microphthalmia

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 position 557 in exon 3 of the cDNA (c.557T>A, NM_010626). This changes the valine residue to glutamic acid at position 186 of the encoded protein (p.V186E).

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).

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

ciliopathy

Research Areas By Phenotype

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

Developmental Biology Research
- Internal/Organ Defects
  - gonads
  - heart
  - heart: vasculature
  - lung
  - brain
- Craniofacial and Palate Defects
  - cleft palate and cleft lip
- Skeletal Defects
  - hydrocephaly
  - polydactyly
Internal/Organ Research
- Heart Abnormalities
- Lung Defects
- Skeleton
Cardiovascular Research
- Heart Abnormalities
- Vascular Defects

Mammalian Phenotype Terms by Genotype

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

Genotype: Kif7^b2b2254Clo/Kif7^b2b2254Clo
C57BL/6J-Kif7

cardiovascular system phenotype

atrioventricular septal defect

ventricular septal defect

interrupted aortic arch

double outlet right ventricle

overriding aortic valve

pulmonary artery hypoplasia

growth/size/body region phenotype

cleft palate

cleft upper lip

limbs/digits/tail phenotype

preaxial polydactyly

postaxial polydactyly

polydactyly
- polydactyly with preaxial or postaxial digit duplication

syndactyly

nervous system phenotype

exencephaly

hydrocephaly

reproductive system phenotype

abnormal reproductive system development
- abnormal gonad development

respiratory system phenotype

abnormal lung lobe morphology
- abnormal lung lobation

vision/eye phenotype

anophthalmia

microphthalmia

craniofacial phenotype

cleft palate

cleft upper lip

digestive/alimentary phenotype

cleft palate

References

Additional - Kif7^b2b2254Clo 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-Kif7^b2b2254Clo/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #018268 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
	Unknown

Related Products and Services

Frozen Mouse Embryo	C57BL/6J-Kif7<b2b2254Clo>/J	$2595.00
Frozen Mouse Embryo	C57BL/6J-Kif7<b2b2254Clo>/J	$2595.00
Frozen Mouse Embryo	C57BL/6J-Kif7<b2b2254Clo>/J	$3373.50
Frozen Mouse Embryo	C57BL/6J-Kif7<b2b2254Clo>/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

Control Suggestions

Additional Information

Kif7b2b2254Clo

Allele Symbol: Kif7b2b2254Clo

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).

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: Kif7b2b2254Clo/Kif7b2b2254CloC57BL/6J-Kif7

cardiovascular system phenotype

growth/size/body region phenotype

limbs/digits/tail phenotype

nervous system phenotype

reproductive system phenotype

respiratory system phenotype

vision/eye phenotype

craniofacial phenotype

digestive/alimentary phenotype

References

Additional - Kif7b2b2254Clo 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

Kif7^b2b2254Clo

Allele Symbol: Kif7^b2b2254Clo

Genotype: Kif7^b2b2254Clo/Kif7^b2b2254Clo
C57BL/6J-Kif7

Additional - Kif7^b2b2254Clo related