Dctn5<b2b315Clo> Chemically induced Allele Detail MGI Mouse (MGI:5313698)

Dctn5^b2b315Clo
Chemically induced Allele Detail

Summary

Symbol:	Dctn5^b2b315Clo
Name:	dynactin 5; Bench to Bassinet Program (B2B/CVDC), mutation 315 Cecilia Lo
MGI ID:	MGI:5313698
Synonyms:	Nemo
Gene:	Dctn5 Location: Chr7:121732264-121748267 bp, + strand Genetic Position: Chr7, 65.47 cM, cytoband F3
Alliance:	Dctn5^b2b315Clo page

Mutant 315-006-NA exhibit malalignment of the great arteries.

Show the 12 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 nucleotide +6 following coding nucleotide 348 (c.348+6T>C, NM_021608) in intron 4. This may affect splicing from the nearby splice donor site. (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Dctn5^b2b315Clo, and may be present in stocks carrying this mutation.

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Structures Affected by this Mutation:

7 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 Dctn5 Mutation:	16 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular defect: Double outlet right ventricle (DORV), overriding aorta, and ventricular septal defect (VSD)
Non-Cardiovascular defect: Micrognathia, microcephaly/anencephaly, holoprosencephaly.

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
0602	DORV, ventricular defect committed to aorta
1310	Ventricular septal defect, membranous
1432	Overriding aortic valve
3804	Congenital heart disease
4508	Polycystic kidney disease
4863	Opthalmic malformation
4874	Mouth malformation

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)

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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