Mapk7^b2b2346Clo
Chemically induced Allele Detail

Summary

• Symbol: Mapk7^b2b2346Clo
• Name: mitogen-activated protein kinase 7; Bench to Bassinet Program (B2B/CVDC), mutation 2346 Cecilia Lo
• MGI ID: MGI:5554435
• Synonyms: Smiley
• Gene: Mapk7 Location: Chr11:61379638-61385101 bp, - strand Genetic Position: Chr11, 37.96 cM
• Alliance: Mapk7^b2b2346Clo page

Mutant 2346-004-2 (E16.5) exhibits parallel outflow tracts, hypoplastic transverse arch, and thin ventricles which is diagnosed as DORV and ventricular non-compaction by EFIC imaging

Show the 14 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: Undefined
• Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a A to G substitution at coding nucleotide 1801 in exon 5 of the cDNA (c.1801A>G, NM_011841). This changes the threonine residue to alanine at position 601 of the encoded protein (p.T601A). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Mapk7^b2b2346Clo, and may be present in stocks carrying this mutation.

Expression

In Structures Affected by this Mutation:

2 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 Mapk7 Mutation: 32 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotype: Double outlet right ventricles (DORV) with subaortic VSD or atrioventricular septal defects (AVSD), muscular VSD, and ventricular non-compaction
Noncardiovascular phenotype: hydronephrosis and cystic kidney

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
0606	DORV + AVSD (AV canal)
1100	Atrioventricular canal (endocardial cushion defect)
1300	Ventricular septal defect
1802	Excessive myocardial trabeculation or noncompaction
4502	Hydronephrosis

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: 2 reference(s)