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Allele : Kif7<b2b2254Clo> kinesin family member 7; Bench to Bassinet Program (B2B/CVDC) mutation 2254, Cecilia Lo
Primary Identifier  MGI:5498230 Allele Type  Chemically induced (ENU)
Gene  Kif7 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  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

molecularNote  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).
  • mutations:
  • Single point mutation
  • synonyms:
  • Rocco,
  • Rocco
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Trail: Allele

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0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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