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Ap1b1b2b1660Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Ap1b1b2b1660Clo
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: Chr11:4986824-5042729 bp, + strand  Genetic Position: Chr11, 3.15 cM, cytoband A2
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 detailsThe molecular lesion is a T-to-C single point mutation at position 1094 of the cDNA (c.T1094C, NM_007454) that is predicted to cause an amino acid substitution at position 365 of the encoded protein (p.V365A). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Ap1b1b2b1660Clo, and may be present in stocks carrying this mutation.
Phenotypes
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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:  13 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

Phenotypic Similarity to Human Syndrome: Primary ciliary dyskinesia, Kartagener's syndrome, Heterotaxy

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). 2011-15;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory