Drc1^b2b2237Clo
Chemically induced Allele Detail

Summary

• Symbol: Drc1^b2b2237Clo
• 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
• Alliance: Drc1^b2b2237Clo page

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 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 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, Drc1^b2b2237Clo, and may be present in stocks carrying this mutation.

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Drc1 Mutation: 36 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). 2011-09-12
• All: 2 reference(s)