Amn^b2b2259Clo
Chemically induced Allele Detail

Summary

• Symbol: Amn^b2b2259Clo
• Name: amnionless; Bench to Bassinet Program (B2B/CVDC), mutation 2259 Cecilia Lo
• MGI ID: MGI:5614775
• Gene: Amn Location: Chr12:111237530-111242860 bp, + strand Genetic Position: Chr12, 60.94 cM
• Alliance: Amn^b2b2259Clo page

Mutant (E14.5) shows malpositioned outflow tracts with possible right aortic arch.

Show the 8 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 an A to G substitution at coding nucleotide 1370 in exon 12 of the cDNA (c.1370A>G, NM_033603). This changes the glutamic acid residue to glycine at position 457 of the encoded protein (p.E457G). (J:175213)

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Amn Mutation: 19 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotype: Double outlet right ventricle (DORV) with subaortic VSD, hypoplastic pulmonary artery, right aortic arch, aberrant left subclavian artery forming incomplete vascular ring, ventricular noncompaction, biventricular hypertrophy.

Non-cardiac phenotype: Micropthalmia, malalignmed sternum

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
602	DORV + AVSD (AV canal)
1610	Atrioventricular canal (endocardial cushion defect)
1802	Common atrium
2720	Ventricular septal defect
2730	Excessive myocardial trabeculation or noncompaction
2760	Coronary fistula (arterio-venous or arterio-cameral)
4100	Inferior vena cava anomaly
4877	Abdominal situs ambiguous (abdominal heterotaxy)

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)