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Allele : Ptk7<b2b2445Clo> PTK7 protein tyrosine kinase 7; Bench to Bassinet Program (B2B/CVDC), mutation 2445 Cecilia Lo
Primary Identifier  MGI:5552948 Allele Type  Chemically induced (ENU)
Gene  Ptk7 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  Summative Diagnosis:
Cardiovascular Phenotype: Double outlet right ventricle (DORV), ventricular septal defect (VSD)
Noncardiovascular Phenotype: Spina bifida, exencephaly, micrognathia, malaligned sternal vertebrae, short snout/short trunk, absent tail, preaxial digit duplication, omphalocele, cystic kidneys

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
4100 Skeletal, skin, muscle anomaly
4103 Polydactyly
4134 Skull anomaly, congenital
4157 Spina bifida
4163 Micrognathia
4170 Hand and/or foot anomaly
4404 Omphalocele
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic abnormality

molecularNote  This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substituation at coding nucleotide 1904 of the cDNA (c.1904T>A, NM_175168). This changes the isoleucine residue to asparagine at position 635 of the encoded protein (p.I635N).
  • mutations:
  • Single point mutation
  • synonyms:
  • Herky,
  • Herky
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

5 Publication categories





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