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Allele : Cxcr4<b2b220Clo> C-X-C motif chemokine receptor 4; Bench to Bassinet Program (B2B/CVDC) mutation 220, Cecilia Lo
Primary Identifier  MGI:5297422 Allele Type  Chemically induced (ENU)
Gene  Cxcr4 Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  B2B/CvDC
description  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

molecularNote  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).
  • mutations:
  • Single point mutation
  • synonyms:
  • Frodo,
  • Frodo
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

6 Publication categories





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