Lama5<b2b2966.1Clo> Chemically induced Allele Detail MGI Mouse (MGI:5646299)

Lama5^b2b2966.1Clo
Chemically induced Allele Detail

Summary

Symbol:	Lama5^b2b2966.1Clo
Name:	laminin, alpha 5; Bench to Bassinet Program (B2B/CVDC), mutation 2966, subline 1 Cecilia Lo
MGI ID:	MGI:5646299
Gene:	Lama5 Location: Chr2:179818166-179867652 bp, - strand Genetic Position: Chr2, 102.7 cM
Alliance:	Lama5^b2b2966.1Clo page

Mutant 2966-005-2 (E15.5) displays heterotaxy with mesocardia and left lung isomerism.

Show the 27 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 b2b2966Clo. The molecular lesion for this subline is a T to A substitution at coding nucleotide 333 of the cDNA (c.333T>A, NM_001081171). This changes the cysteine residue to a translation stop at position 111 of the encoded protein (p.C111). (J:175213*)

Phenotypes

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

Expression

In Structures Affected by this Mutation:

18 anatomical structure(s)

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available Cell Lines: 0 lines available
Carrying any Lama5 Mutation:	153 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: Mesocardia, double outlet right ventricle (DORV)/overriding aorta, ventricular septal defects (VSDs), atrioventricular septal defect (AVSD), persistent truncus arteriosus (PTA), hypoplastic pulmonary artery (PA), and aortic arch anomalies including interrupted aortic arch (IAA), right aortic arch (RAA), and aberrant right subclavian artery forming incomplete vascular ring.

Noncardiovascular phenotype: Exencephaly, syndactyly, runted, curly tail, single/hypoplastic thymus, low-set ears, left lung isomerism, kidney cysts and tubular dilation, kidney agenesis, and eye defects such as anophthalmia and microphthalmia.

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
1050	Tetralogy of Fallot
1300	Ventricular septal defect
1610	Pulmonary stenosis
2731	Aberrant right subclavian artery
2760	Vascular ring
4170	Hand and/or foot anomaly
4174	Syndactyly
4239	Left bronchial isomerism
4503	Agenesis of kidneys
4864	Anophthalmia
4877	Microphthalmia
4906	Non-cardiac abnormality
4907	Non-cardiac thoracic abnormality
600	Double outlet right ventricle

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)

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