Kif7^b2b2254Clo
Chemically induced Allele Detail

Summary

• Symbol: Kif7^b2b2254Clo
• Name: kinesin family member 7; Bench to Bassinet Program (B2B/CVDC) mutation 2254, Cecilia Lo
• MGI ID: MGI:5498230
• Synonyms: Rocco
• Gene: Kif7 Location: Chr7:79347846-79365468 bp, - strand Genetic Position: Chr7, 45.09 cM, cytoband D2
• Alliance: Kif7^b2b2254Clo page

Mutant 2254-002-1 (E14.5) has DORV, right aortic arch (RAA), and hypoplastic PA

Show the 21 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: B2B/CvDC

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: 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). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Kif7^b2b2254Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

11 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Kif7 Mutation: 40 strains or lines available

Notes

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

References

• Original: J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-09-12
• All: 2 reference(s)