Ap2b1^b2b2321Clo
Chemically induced Allele Detail

Summary

• Symbol: Ap2b1^b2b2321Clo
• Name: adaptor-related protein complex 2, beta 1 subunit; Bench to Bassinet Program (B2B/CVDC), mutation 2321 Cecilia Lo
• MGI ID: MGI:5552944
• Synonyms: Soot
• Gene: Ap2b1 Location: Chr11:83189850-83295861 bp, + strand Genetic Position: Chr11, 50.3 cM, cytoband B5
• Alliance: Ap2b1^b2b2321Clo page

Mutant 2321-006-MNE is shows an anterior aorta, RAA, and biventricular hypertrophy which is diagnosed as Taussig-Bing type DORV by EFIC imaging

Show the 20 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 substitution at position 1343 of the cDNA (c.1343T>A, NM_027915). This changes the methionine residue to lysine at position 448 of the encoded protein (p.M448K). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Ap2b1^b2b2321Clo, and may be present in stocks carrying this mutation.

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Ap2b1 Mutation: 74 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotype: Overriding aorta/double outlet right ventricle (DORV, Taussig-Bing subtype) with atrioventricular septal defect (AVSD), perimembranous ventricular septal defect (VSD), right aortic arch (RAA), and ventricular hypertrophy
Noncardiovascular phenotype: Micrognathia, cleft palate, and hypoplastic thymus

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
0606	DORV + AVSD (AV canal)
0610	DORV, Taussig bing
1100	Atrioventricular canal (endocardial cushion defect)
1310	Ventricular septal defect, membranous
1432	Overriding aortic valve
2700	Abnormal aortic arch
2720	Right aortic arch
3608	Left ventricular hypertrophy
3609	Right ventricular hypertrophy
4163	Micrognathia
4876	Cleft palate
4906	Non-cardiac abnormality
7505	Biventricular hypertrophy

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)