Ap1b1^b2b1660Clo
Chemically induced Allele Detail

Summary

• Symbol: Ap1b1^b2b1660Clo
• Name: adaptor protein complex AP-1, beta 1 subunit; Bench to Bassinet Program (B2B/CVDC), mutation 1660 Cecilia Lo
• MGI ID: MGI:5433323
• Synonyms: Pistachio
• Gene: Ap1b1 Location: Chr11:4936824-4992791 bp, + strand Genetic Position: Chr11, 3.15 cM, cytoband A2
• Alliance: Ap1b1^b2b1660Clo page

Mutant 11660-002-LA exhibits dextrocardia with situs inversus and possible bile duct obstruction

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 C substitution at coding nucleotide position 1094 in exon 9 of the cDNA (c.1094T>C, NM_007454). This changes the valine residue to alanine at position 365 of the encoded protein (p.V365A). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Ap1b1^b2b1660Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Ap1b1 Mutation: 50 strains or lines available

Notes

Summative Diagnosis:
Laterality defect phenotypes: Heterotaxy and situs inversus totalis with left pulmonary isomerism, hypoplastic spleen/asplenia, abnormal bilateral inferior vena cava (IVC)
Noncardiac phenotype: Malaligned sternovertebrae, dyskinetic/immotile respiratory cilia

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
191	Heterotaxy Syndrome
2810	Inferior vena cava anomaly
4771	Asplenia

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: 4 reference(s)