C57BL/6J-Kif7^b2b2254Clo/J

Stock number: 018268
Research areas: Cardiovascular Research, Developmental Biology Research, Internal/Organ Research

Description

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.

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).

Allele

Symbol: Kif7^b2b2254Clo
Name: Bench to Bassinet Program (B2B/CVDC) mutation 2254, Cecilia Lo
MGI accession ID: MGI:5498230
Generation method: Chemically induced (ENU)
Marker symbol: Kif7
Marker name: kinesin family member 7
Chromosome: 7
Strain of origin: C57BL/6J
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).
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