Lox<b2b370.2Clo> Chemically induced Allele Detail MGI Mouse (MGI:5313524)

Lox^b2b370.2Clo
Chemically induced Allele Detail

Summary

Symbol:	Lox^b2b370.2Clo
Name:	lysyl oxidase; Bench to Bassinet Program (B2B/CVDC), mutation 370, subline 2 Cecilia Lo
MGI ID:	MGI:5313524
Synonyms:	Lox^{c.G854T/p.C285F}
Gene:	Lox Location: Chr18:52649139-52662939 bp, - strand Genetic Position: Chr18, 28.22 cM
Alliance:	Lox^b2b370.2Clo page

Diaphragmatic hernia with liver in the chest cavity

Show the 10 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 b2b370Clo. The molecular lesion for this subline is a G to T substitution at coding nucleotide 854 in exon 3 of the cDNA (c.854G>T, NM_010728). This changes the cysteine residue to phenylalanine at position 285 of the encoded protein (p.C285F). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Lox^b2b370.2Clo, 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:

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 Lox Mutation:	23 strains or lines available

Notes

This mutation was derived from the parent line b2b370Clo.

Summative Diagnosis:
Cardiovascular defects: Supravalvular aortic stenosis (narrowed ascending aorta), Thickened great artery walls, Biventricular hypertrophy, and Pulmonary artery branch stenosis.
Non-cardiac defects: diaphragmatic hernia

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
1430	Aortic stenosis - supravalvar
1617	Pulmonary stenosis, bilateral branch pulmonary artery
2600	Systemic artery anomaly
2700	Abnormal aortic arch
3608	Left ventricular hypertrophy
3609	Right ventricular hypertrophy
3804	Congenital heart disease
4031	Williams sydrome
4907	Non-cardiac thoracic 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:	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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