Cxcr4<b2b220Clo> Chemically induced Allele Detail MGI Mouse (MGI:5297422)

Cxcr4^b2b220Clo
Chemically induced Allele Detail

Summary

Symbol:	Cxcr4^b2b220Clo
Name:	C-X-C motif chemokine receptor 4; Bench to Bassinet Program (B2B/CVDC) mutation 220, Cecilia Lo
MGI ID:	MGI:5297422
Synonyms:	Frodo
Gene:	Cxcr4 Location: Chr1:128515936-128520030 bp, - strand Genetic Position: Chr1, 56.43 cM
Alliance:	Cxcr4^b2b220Clo page

Narrowing of the aorta confirmed by EFIC imaging

Show the 26 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 mutant phenotype is attributed to a G to A substitution at coding nucleotide position 295 in exon 2 of the cDNA (c.295G>A, NM_009911). This changes the aspartic acid residue to asparagine at position 99 of the encoded protein (p.D99N). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Cxcr4^b2b220Clo, 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:

4 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 Cxcr4 Mutation:	46 strains or lines available

Notes

Summative Diagnosis
Cardiovascular defects: Perimembranous and muscular ventricular septal defects (VSD), aortic valve atresia, aortic arch anomalies including right aortic arch (RAA), hypoplastic aortic arch, and double aortic arch.
Non-cardiovascular defects: Duplex kidney with hydronephrosis, kidney cysts.
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
0320	Aortic atresia
1310	Ventricular septal defect, membranous
1320	Ventricular septal defect, muscular
2704	Aortic arch hypoplasia
2720	Right aortic arch
2761	Double aortic arch
2780	Double aortic arch, balanced arches
3804	Congenital heart disease
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:	4 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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