Ptk7^b2b2445Clo
Chemically induced Allele Detail

Summary

• Symbol: Ptk7^b2b2445Clo
• Name: PTK7 protein tyrosine kinase 7; Bench to Bassinet Program (B2B/CVDC), mutation 2445 Cecilia Lo
• MGI ID: MGI:5552948
• Synonyms: Herky
• Gene: Ptk7 Location: Chr17:46875397-46940430 bp, - strand Genetic Position: Chr17, 22.9 cM, cytoband B3
• Alliance: Ptk7^b2b2445Clo page

Mutant 2445-007-NA has parallel outflow tracts that was later confirmed as DORV by EFIC imaging

Show the 24 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 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). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Ptk7^b2b2445Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

6 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 Ptk7 Mutation: 60 strains or lines available

Notes

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

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: 3 reference(s)