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Drc1b2b2237Clo
Chemically induced Allele Detail
Nomenclature
Symbol: Drc1b2b2237Clo
Name: dynein regulatory complex subunit 1; Bench to Bassinet Program (B2B/CVDC), mutation 2237 Cecilia Lo
MGI ID: MGI:5552738
Gene: Drc1  Location: Chr5:30486386-30524039 bp, + strand  Genetic Position: Chr5, 16.42 cM
Mutant 2237-004-NA shows situs inversus totalis with dextrocardia, inverted outflow, inverted lung and liver lobation, dextrogastria as well as biventricular hypertrophy that was confirmed by EFIC imaging

Show the 4 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 detailsThis ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at coding nucleotide 2033 in exon 15 of the cDNA (c.2033T>A, NM_001033460). This changes the leucine residue to glutamine at position 678 of the encoded protein (p.L678Q). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Drc1b2b2237Clo, and may be present in stocks carrying this mutation.
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
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 Drc1 Mutation:  21 strains or lines available
Notes
Summative Diagnosis:
Cardiovascular Phenotype: Laterality defect with dextrocardia associated with situs inversus totalis
Noncardiovascular Phenotype: Visceral organ situs inversus

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
0100 Situs inversus totalis
0110 Dextrocardia
3816 Abdominal situs inversus
3974 {I,L,I}
4851 Kartagener syndrome (siewart syndrome)(primary ciliary dyskinesia)
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). 2011-15;
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/30/2021
MGI 6.17
The Jackson Laboratory