Cntrl<b2b1468.1Clo> Chemically induced Allele Detail MGI Mouse (MGI:5438058)

Cntrl^b2b1468.1Clo
Chemically induced Allele Detail

Summary

Symbol:	Cntrl^b2b1468.1Clo
Name:	centriolin; Bench to Bassinet Program (B2B/CVDC), mutation 1468, subline 1 Cecilia Lo
MGI ID:	MGI:5438058
Synonyms:	Cep110^b2b1468.1Clo, Hunchback
Gene:	Cntrl Location: Chr2:34999504-35068834 bp, + strand Genetic Position: Chr2, 23.36 cM, cytoband B-C1
Alliance:	Cntrl^b2b1468.1Clo page

Mutant 1468-003-4 (E15.5) displays right aortic arch, hypoplastic transverse arch, and malpositioning of the great arteries which is diagnosed as double outlet right ventricle (DORV) by ECM histopathology.

Show the 13 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. It is a subline of b2b1468Clo. The molecular lesion for this subline is a T to C substitution at coding nucleotide 1886 in exon 13 (c.1886T>C, NM_012018). This changes the isoleucine residue to threonine at position 629 in the encoded protein (p.I629T). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Cntrl^b2b1468.1Clo, and may be present in stocks carrying this mutation.

Phenotypes

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

Disease models

Expression

In Structures Affected by this Mutation:

9 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 Cntrl Mutation:	95 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: Double outlet right ventricle (DORV), atrioventricular septal defect (AVSD), ventricular septal defects (VSD)

Noncardiovascular phenotype: Cystic kidney, tubular dilations, hydroureter, and hydronephrosis

Phenotypic Similarity to Human Syndrome:
Nephronophthisis

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
600	Double outlet right ventricle
1300	Ventricular septal defect
1821	Hypoplastic right ventricle (subnormal cavity volume)
2050	Atrial septal defect
4502	Hydronephrosis
4508	Polycystic kidney disease

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:	3 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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