C57BL/6J-Ptk7^b2b2445Clo/J

Stock number: 022644
Research areas: Cardiovascular Research, Developmental Biology Research, Internal/Organ Research

Description

This Ptk7 mutation was identified in a screen of ENU-induced mutations and may be useful in studies of congenital heart disease.

The Jackson Laboratory cannot guarantee that cryorecovery of G1 sperm from the Bench to Bassinet (B2B) collection will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.

Detailed description

This T-to-A point mutation in the Ptk7 (PTK7 protein tyrosine kinase 7) cDNA was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.

Homozygotes demonstrate double outlet right ventricle (DORV), ventricular septal defect (VSD). Spina bifida, exencephaly, micrognathia, malaligned sternal vertebrae, short snout/short trunk, absent tail, preaxial digit duplication, omphalocele, and cystic kidneys are also seen.

Development

This ENU-induced mutation was created and maintained on a C57BL/6J genetic background by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program. A T-to-A single point mutation at position 1904 of the cDNA (c.T1904A, NM_175168) was discovered through whole exome, high throughput sequencing. This mutation is predicted to cause an isoleucine to asparagine amino acid substitution at position 635 of the encoded protein (p.I635N).

Allele

Symbol: Ptk7^b2b2445Clo
Name: Bench to Bassinet Program (B2B/CVDC), mutation 2445 Cecilia Lo
MGI accession ID: MGI:5552948
Generation method: Chemically induced (ENU)
Marker symbol: Ptk7
Marker name: PTK7 protein tyrosine kinase 7
Chromosome: 17
Strain of origin: C57BL/6J
Molecular note: 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).
General note: 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