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Lama5b2b2966.1Clo
Chemically induced Allele Detail
Summary
Symbol: Lama5b2b2966.1Clo
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: Lama5b2b2966.1Clo 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
Key:
hm homozygous ht heterozygous tg involves transgenes √ phenotype observed
cn conditional genotype  cx complex: > 1 genome feature ot other: hemizygous, indeterminate,... N normal phenotype
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
hm1
Lama5b2b2966.1Clo/Lama5b2b2966.1Clo
C57BL/6J-Lama5b2b2966.1Clo
 
Phenotypes:
Affected Systems
hm1
show or hide all annotated terms
 
cardiovascular system
√
abnormal pulmonary artery morphology
√
pulmonary artery hypoplasia
√
interrupted aortic arch
√
right aortic arch
√
vascular ring
√
abnormal right subclavian artery morphology
√
persistent truncus arteriosus
√
double outlet right ventricle
√
mesocardia
√
atrioventricular septal defect
√
ventricular septal defect
√
craniofacial
√
lowered ear position
√
endocrine/exocrine glands
√
thymus hypoplasia
√
growth/size/body
√
lowered ear position
√
abnormal thoracic cavity morphology
√
kidney cyst
√
decreased body size
√
left pulmonary isomerism
√
hearing/vestibular/ear
√
lowered ear position
√
hematopoietic system
√
thymus hypoplasia
√
immune system
√
thymus hypoplasia
√
limbs/digits/tail
√
abnormal autopod morphology
√
syndactyly
√
curly tail
√
nervous system
√
exencephaly
√
renal/urinary system
√
kidney cyst
√
dilated renal tubule
√
absent kidney
√
respiratory system
√
left pulmonary isomerism
√
vision/eye
√
microphthalmia
√
anophthalmia
√
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)
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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Funding Information
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12/17/2024
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