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Kif7b2b2254Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Kif7b2b2254Clo
Name: kinesin family member 7; Bench to Bassinet Program (B2B/CVDC), mutation 2254 Cecilia Lo
MGI ID: MGI:5498230
Synonyms: Rocco
Gene: Kif7  Location: Chr7:79698098-79715720 bp, - strand  Genetic Position: Chr7, 45.09 cM, cytoband D2
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
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  4 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

Phenotypic Similarity to Human Syndrome: Acrocallosal Syndrome
Hydrolethalus Syndrome 2
Joubert Syndrome and Related Disorder (http://www.ncbi.nlm.nih.gov/books/NBK1325/)

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. MGI Direct Data Submission (B2B/CvDC). 2011-13;
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory