Ephb4^b2b2412Clo
Chemically induced Allele Detail

Summary

• Symbol: Ephb4^b2b2412Clo
• Name: Eph receptor B4; Bench to Bassinet Program (B2B/CVDC), mutation 2412 Cecilia Lo
• MGI ID: MGI:5614904
• Gene: Ephb4 Location: Chr5:137348371-137372784 bp, + strand Genetic Position: Chr5, 76.38 cM
• Alliance: Ephb4^b2b2412Clo page

Mutant 2412-003-2 (E15.5) presents with parallel outflow tracts suggesting overriding aorta. Also observed is premature constriction of the patent ductus.

Show the 10 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 T to C substitution at coding nucleotide 1541 in exon 8 of the cDNA (c.1541T>C, NM_001159571). This changes the valine residue to alanine at position 514 of the encoded protein (p.V514A). (J:175213)

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Ephb4 Mutation: 43 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotype: Overriding aorta, perimembranous ventricular septal defect (VSD), hypoplastic pulmonary artery (PA), and aortic arch anomalies.

Noncardiovascular phenotype: Cystic kidneys and hydronephrosis.

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 Codes	Code Description
1310	Ventricular septal defect, membranous
1432	Overriding aortic valve
1610	Pulmonary stenosis
2760	Vascular ring
4508	Polycystic kidney disease
4906	Non-cardiac 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: 2 reference(s)